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The Role of Diagnostic Imaging in Macular Telangiectasia Type 2
While uncommon with subtle findings, macular telangiectasia type 2 can be diagnosed with careful retinal examination and selective use of diagnostic imaging.
Macular telangiectasia type 2 (MacTel2) is an uncommon, bilateral, and asymmetric condition that typically presents between the ages of 40 and 60 years without sex predilection.1-9 Its estimated prevalence ranges from 0.02 to 0.10%.2,8 The disease can manifest in either a nonproliferative or proliferative phase; the latter is far less common. The etiology of MacTel2 is poorly understood, but it is believed to have neurodegenerative as well as vascular components.1-6,8-10 We present a case of MacTel2 and highlight the role of diagnostic imaging in early diagnosis prior to development of classic funduscopic features.
Case Presentation
A 66-year-old White male with a 10-year history of type 2 diabetes mellitus (T2DM) presented to the eye clinic for an annual eye examination. The patient was taking metformin, and 6 months prior to presentation, his hemoglobin A1c was 7.4%. He had a history of mild nonproliferative diabetic retinopathy in the left eye without diabetic macular edema. He reported no ocular concerns.
On examination, best-corrected visual acuity (VA) was 20/20 in each eye. Slit-lamp examination was notable only for bilateral mild nuclear sclerosis. Dilated fundus examination showed a blunted foveal reflex consistent with the appearance of a macular pseudo-hole in the right eye and was unremarkable in the left eye (Figure 1).
Macular optical coherence tomography (OCT) revealed an intraretinal cyst without thickening in the temporal fovea of both eyes with mild disruption of the underlying ellipsoid zone in the right eye (Figure 2). A presumptive diagnosis of MacTel2 vs diabetic macular edema was made, and the patient was referred to the retina clinic for further evaluation.
At the 1-month follow-up in the retina clinic, VA, macula OCT, and fundus examination were stable. Fundus autofluorescence (FAF), optical coherence tomography angiography (OCT-A), and fluorescein angiography (FA) were performed. The FAF revealed a hyperreflective crescent in the temporal aspect of the fovea of both eyes, greater in the right eye than the left (Figure 3). The OCT-A showed abnormal dilation of the vessels in the deep capillary plexus of the temporal fovea of both eyes (Figure 4). This area of abnormality correlated to the area of hyperreflectivity seen on FAF. The early- phase FA revealed telangiectatic vessels in the temporal fovea in both eyes; in the late phase, there was leakage of telangiectatic vessels, which remained localized to the temporal perifovea and spared the central fovea of both eyes (Figure 5). The patient was diagnosed with MacTel2.
Discussion
This case highlights several important management considerations in MacTel2. These include symptoms, disease stage, and diagnostic imaging, which can allow more precise staging of the disease.
The etiology of MacTel2 is unknown.6 It is believed to be primarily a neurodegenerative condition that damages Müller cells and photoreceptors, leading to vascular changes.1-6,8-10 Müller cells may play a role in creating and maintaining the integrity of the blood-retinal barrier, particularly in the deep capillary plexus where the vascular abnormalities begin.6,10 These early changes in the deep capillary plexus may evolve to include the superficial capillary plexus in intermediate stages with anastomoses forming between the 2 layers.2,6-10 Late proliferative stages show significant alterations of the juxtafoveal capillary network, subretinal neovascularization and retinochoroidal anastomoses.6,7,9,11 In one cohort study, 81% of patients with MacTel2 were White, and a genetic link is still under investigation.2,4-9
Presentation
The most common symptoms of MacTel2 include blurred vision, microscotoma, metamorphopsia, and difficulty reading, with missing or distorted letters a common concern.1,2,4-8 Best-corrected VA at presentation is usually better than 20/30, and disease progression tends to be slow.2,6 Microscotomata are best mapped with microperimetry.1-3,5-7
There are several classic fundus findings (Table). In the early stages, these findings are subtle or entirely absent funduscopically.1,2,4-10 In intermediate stages, fundus findings become apparent and include a loss of retinal clarity (grayish perifoveal sheen), telangiectatic macular vessels, retinal pigment epithelium hypertrophy, blunted right-angled vessels, and superficial retinal crystalline deposits.2,4-11 Right-angled vessels may have a greater association with choroidal neovascularization, with growth into the outer retina in particular being a marker of disease progression.9 The crystalline deposits have been hypothesized to be the footplates of degenerated Müller cells.6
An important vision-threatening complication of MacTel2 is progression to proliferative disease.1,2,5-10 Choroidal neovascularization is present in a minority of cases and is associated with rapid vision loss.2,6 It is often accompanied by subretinal hemorrhage and lipid exudation.6,7,9 If untreated, the result can be disciform scarring and fibrosis.2,5,6 Additional complications of MacTel2 are foveal atrophy and full thickness macular holes.1,2,4-8, Macular holes secondary to MacTel2 respond poorly to pars plana vitrectomy with inner limiting membrane (ILM) peel.2,6
Diagnostic Testing
Diagnostic retinal imaging is invaluable in the diagnosis of MacTel2. The OCT can detect hyporeflectivity within the ellipsoid zone in early disease corresponding to ellipsoid zone loss, which increases as the disease progresses.1-8,10 This loss most often begins in the temporal parafoveal region and correlates with the progression of both relative and absolute scotomas perceived by affected individuals.2,3,5,8
Intraretinal foveal hyporeflective spaces on the OCT represent cavity formation after Müller cell and photoreceptor loss and do not correlate with increased thickness.1,2,4,6,7 This is important in differentiating from diabetic macular edema, which will often show thickening.6 In most cases of MacTel2, foveal thickness is decreased.4-6 The ILM remains intact overlying this space and is referred to as ILM drape.6,7 This can cause blunting or absence of the foveal light reflex and mimic the appearance of a macular pseudohole.4
The OCT-A allows visualization of capillary changes through every layer of the retina, which could not otherwise be appreciated, allowing early detection as well as precise staging of the disease.2,6-10 Anastomoses present in late-stage disease also can be imaged using OCT-A.7,9 These anastomoses can be seen as hyperreflective vasculature present between the retinal layers where there is little to no vasculature visible in normal eyes.7
A lesser-known occurrence in MacTel2 is the depletion of macular luteal pigment, with many eyes possessing an abnormal distribution.2,4,6-8,10 This depletion and abnormal distribution can be visualized with FAF. In particular, short wavelength fundus autofluorescence (SW-FAF) is the most effective at highlighting these changes.10 The characteristic finding is a hyperreflective halo surrounding the fovea.2,6 Fluorescence life imaging ophthalmoscopy (FLIO) is a recent development in FAF that measures FAF lifetime, which is the duration of time a structure autofluoresces.8 A cross-sectional study published in 2018 showed prolonged FAF lifetime in the temporal fovea of patients with early and moderate stage MacTel2 when compared with normal patients.8 More advanced stages showed a ring encircling the entire fovea.8
Classic FA findings in MacTel2 include early hyperfluorescence of temporal foveal telangiectatic capillaries and late-stage leakage with sparing of the central fovea.1,2,4,6,7,11
Management and Prognosis
Management of MacTel2 depends on the stage of the disease. In the absence of proven treatment, management in nonproliferative stages is conservative.2,6 Intravitreal anti-VEGF does not offer any benefit in nonproliferative disease.2,5,6 Indeed, as VEGF may have a neuroprotective effect on the retina, anti-VEGF may result in more harm than benefit in earlier disease stages.5 In proliferative stages, intravitreal anti-VEGF can help limit scarring and prevent vision loss.2,5
Long-term prognosis of MacTel2 is variable with VA typically better than 20/100.2 Vision loss in MacTel2 most often begins paracentrally; it can then progress centrally, leading to significant reduction in VA.12 The progression of this functional vision loss and corresponding structural damage is typically slow.3 VA worse than 20/100 is usually a result of proliferative disease; in such cases, there is potential for severe central vision loss and legal blindness.1
Conclusions
This case of MacTel2 underscores the subtle retinal findings in the earliest stages of the disease and the importance of a complete retinal examination and diagnostic imaging with macula OCT, OCT-A, and FAF to establish the correct diagnosis.
1. Chew EY, Clemons TE, Jaffe GJ, et al. Effect of ciliary neurotrophic factor on retinal neurodegeneration in patients with macular telangiectasia type 2: a randomized clinical trial. Ophthalmology. 2019;126(4):540-549. doi:10.1016/j.ophtha.2018.09.041
2. Christakis PG, Fine HF, Wiley HE. The diagnosis and management of macular telangiectasia. Ophthalmic Surg Lasers Imaging Retina. 2019;50(3):139-144. doi:10.3928/23258160-20190301-02
3. Heeren TFC, Kitka D, Florea D, et al. Longitudinal correlation of ellipsoid zone loss and functional loss in macular telangiectasia type 2. Retina. 2018;38 Suppl 1(suppl 1):S20-S26. doi:10.1097/IAE.0000000000001715
4. Charbel Issa P, Heeren TF, Kupitz EH, Holz FG, Berendschot TT. Very early disease manifestations of macular telangiectasia type 2. Retina. 2016;36(3):524-534. doi:10.1097/IAE.0000000000000863
5. Khodabande A, Roohipoor R, Zamani J, et al. Management of idiopathic macular telangiectasia type 2. Ophthalmol Ther. 2019;8(2):155-175. doi:10.1007/s40123-019-0170-1
6. Wu L. When is macular edema not macular edema? An update on macular telangiectasia type 2. Taiwan J Ophthalmol. 2015;5(4):149-155. doi:10.1016/j.tjo.2015.09.001
7. Roisman L, Rosenfeld PJ. Optical Coherence Tomography Angiography of Macular Telangiectasia Type 2. Dev Ophthalmol. 2016;56:146-158. doi:10.1159/000442807
8. Sauer L, Gensure RH, Hammer M, Bernstein PS. Fluorescence lifetime imaging ophthalmoscopy: a novel way to assess macular telangiectasia type 2. Ophthalmol Retina. 2018;2(6):587-598. doi:10.1016/j.oret.2017.10.008
9. Tzaridis S, Heeren T, Mai C, et al. Right-angled vessels in macular telangiectasia type 2. Br J Ophthalmol. 2021;105(9):1289-1296. doi:10.1136/bjophthalmol-2018-313364
10. Micevych PS, Lee HE, Fawzi AA. Overlap between telangiectasia and photoreceptor loss increases with progression of macular telangiectasia type 2. PLoS One. 2019;14(10):e0224393. Published 2019 Oct 28. doi:10.1371/journal.pone.0224393
11. Gass JD, Oyakawa RT. Idiopathic juxtafoveolar retinal telangiectasis. Arch Ophthalmol. 1982;100(5):769-780. doi:10.1001/archopht.1982.01030030773010
12. Heeren TF, Clemons T, Scholl HP, Bird AC, Holz FG, Charbel Issa P. Progression of vision loss in macular telangiectasia type 2. Invest Ophthalmol Vis Sci. 2015;56(6):3905-3912. doi:10.1167/iovs.15-16915
While uncommon with subtle findings, macular telangiectasia type 2 can be diagnosed with careful retinal examination and selective use of diagnostic imaging.
While uncommon with subtle findings, macular telangiectasia type 2 can be diagnosed with careful retinal examination and selective use of diagnostic imaging.
Macular telangiectasia type 2 (MacTel2) is an uncommon, bilateral, and asymmetric condition that typically presents between the ages of 40 and 60 years without sex predilection.1-9 Its estimated prevalence ranges from 0.02 to 0.10%.2,8 The disease can manifest in either a nonproliferative or proliferative phase; the latter is far less common. The etiology of MacTel2 is poorly understood, but it is believed to have neurodegenerative as well as vascular components.1-6,8-10 We present a case of MacTel2 and highlight the role of diagnostic imaging in early diagnosis prior to development of classic funduscopic features.
Case Presentation
A 66-year-old White male with a 10-year history of type 2 diabetes mellitus (T2DM) presented to the eye clinic for an annual eye examination. The patient was taking metformin, and 6 months prior to presentation, his hemoglobin A1c was 7.4%. He had a history of mild nonproliferative diabetic retinopathy in the left eye without diabetic macular edema. He reported no ocular concerns.
On examination, best-corrected visual acuity (VA) was 20/20 in each eye. Slit-lamp examination was notable only for bilateral mild nuclear sclerosis. Dilated fundus examination showed a blunted foveal reflex consistent with the appearance of a macular pseudo-hole in the right eye and was unremarkable in the left eye (Figure 1).
Macular optical coherence tomography (OCT) revealed an intraretinal cyst without thickening in the temporal fovea of both eyes with mild disruption of the underlying ellipsoid zone in the right eye (Figure 2). A presumptive diagnosis of MacTel2 vs diabetic macular edema was made, and the patient was referred to the retina clinic for further evaluation.
At the 1-month follow-up in the retina clinic, VA, macula OCT, and fundus examination were stable. Fundus autofluorescence (FAF), optical coherence tomography angiography (OCT-A), and fluorescein angiography (FA) were performed. The FAF revealed a hyperreflective crescent in the temporal aspect of the fovea of both eyes, greater in the right eye than the left (Figure 3). The OCT-A showed abnormal dilation of the vessels in the deep capillary plexus of the temporal fovea of both eyes (Figure 4). This area of abnormality correlated to the area of hyperreflectivity seen on FAF. The early- phase FA revealed telangiectatic vessels in the temporal fovea in both eyes; in the late phase, there was leakage of telangiectatic vessels, which remained localized to the temporal perifovea and spared the central fovea of both eyes (Figure 5). The patient was diagnosed with MacTel2.
Discussion
This case highlights several important management considerations in MacTel2. These include symptoms, disease stage, and diagnostic imaging, which can allow more precise staging of the disease.
The etiology of MacTel2 is unknown.6 It is believed to be primarily a neurodegenerative condition that damages Müller cells and photoreceptors, leading to vascular changes.1-6,8-10 Müller cells may play a role in creating and maintaining the integrity of the blood-retinal barrier, particularly in the deep capillary plexus where the vascular abnormalities begin.6,10 These early changes in the deep capillary plexus may evolve to include the superficial capillary plexus in intermediate stages with anastomoses forming between the 2 layers.2,6-10 Late proliferative stages show significant alterations of the juxtafoveal capillary network, subretinal neovascularization and retinochoroidal anastomoses.6,7,9,11 In one cohort study, 81% of patients with MacTel2 were White, and a genetic link is still under investigation.2,4-9
Presentation
The most common symptoms of MacTel2 include blurred vision, microscotoma, metamorphopsia, and difficulty reading, with missing or distorted letters a common concern.1,2,4-8 Best-corrected VA at presentation is usually better than 20/30, and disease progression tends to be slow.2,6 Microscotomata are best mapped with microperimetry.1-3,5-7
There are several classic fundus findings (Table). In the early stages, these findings are subtle or entirely absent funduscopically.1,2,4-10 In intermediate stages, fundus findings become apparent and include a loss of retinal clarity (grayish perifoveal sheen), telangiectatic macular vessels, retinal pigment epithelium hypertrophy, blunted right-angled vessels, and superficial retinal crystalline deposits.2,4-11 Right-angled vessels may have a greater association with choroidal neovascularization, with growth into the outer retina in particular being a marker of disease progression.9 The crystalline deposits have been hypothesized to be the footplates of degenerated Müller cells.6
An important vision-threatening complication of MacTel2 is progression to proliferative disease.1,2,5-10 Choroidal neovascularization is present in a minority of cases and is associated with rapid vision loss.2,6 It is often accompanied by subretinal hemorrhage and lipid exudation.6,7,9 If untreated, the result can be disciform scarring and fibrosis.2,5,6 Additional complications of MacTel2 are foveal atrophy and full thickness macular holes.1,2,4-8, Macular holes secondary to MacTel2 respond poorly to pars plana vitrectomy with inner limiting membrane (ILM) peel.2,6
Diagnostic Testing
Diagnostic retinal imaging is invaluable in the diagnosis of MacTel2. The OCT can detect hyporeflectivity within the ellipsoid zone in early disease corresponding to ellipsoid zone loss, which increases as the disease progresses.1-8,10 This loss most often begins in the temporal parafoveal region and correlates with the progression of both relative and absolute scotomas perceived by affected individuals.2,3,5,8
Intraretinal foveal hyporeflective spaces on the OCT represent cavity formation after Müller cell and photoreceptor loss and do not correlate with increased thickness.1,2,4,6,7 This is important in differentiating from diabetic macular edema, which will often show thickening.6 In most cases of MacTel2, foveal thickness is decreased.4-6 The ILM remains intact overlying this space and is referred to as ILM drape.6,7 This can cause blunting or absence of the foveal light reflex and mimic the appearance of a macular pseudohole.4
The OCT-A allows visualization of capillary changes through every layer of the retina, which could not otherwise be appreciated, allowing early detection as well as precise staging of the disease.2,6-10 Anastomoses present in late-stage disease also can be imaged using OCT-A.7,9 These anastomoses can be seen as hyperreflective vasculature present between the retinal layers where there is little to no vasculature visible in normal eyes.7
A lesser-known occurrence in MacTel2 is the depletion of macular luteal pigment, with many eyes possessing an abnormal distribution.2,4,6-8,10 This depletion and abnormal distribution can be visualized with FAF. In particular, short wavelength fundus autofluorescence (SW-FAF) is the most effective at highlighting these changes.10 The characteristic finding is a hyperreflective halo surrounding the fovea.2,6 Fluorescence life imaging ophthalmoscopy (FLIO) is a recent development in FAF that measures FAF lifetime, which is the duration of time a structure autofluoresces.8 A cross-sectional study published in 2018 showed prolonged FAF lifetime in the temporal fovea of patients with early and moderate stage MacTel2 when compared with normal patients.8 More advanced stages showed a ring encircling the entire fovea.8
Classic FA findings in MacTel2 include early hyperfluorescence of temporal foveal telangiectatic capillaries and late-stage leakage with sparing of the central fovea.1,2,4,6,7,11
Management and Prognosis
Management of MacTel2 depends on the stage of the disease. In the absence of proven treatment, management in nonproliferative stages is conservative.2,6 Intravitreal anti-VEGF does not offer any benefit in nonproliferative disease.2,5,6 Indeed, as VEGF may have a neuroprotective effect on the retina, anti-VEGF may result in more harm than benefit in earlier disease stages.5 In proliferative stages, intravitreal anti-VEGF can help limit scarring and prevent vision loss.2,5
Long-term prognosis of MacTel2 is variable with VA typically better than 20/100.2 Vision loss in MacTel2 most often begins paracentrally; it can then progress centrally, leading to significant reduction in VA.12 The progression of this functional vision loss and corresponding structural damage is typically slow.3 VA worse than 20/100 is usually a result of proliferative disease; in such cases, there is potential for severe central vision loss and legal blindness.1
Conclusions
This case of MacTel2 underscores the subtle retinal findings in the earliest stages of the disease and the importance of a complete retinal examination and diagnostic imaging with macula OCT, OCT-A, and FAF to establish the correct diagnosis.
Macular telangiectasia type 2 (MacTel2) is an uncommon, bilateral, and asymmetric condition that typically presents between the ages of 40 and 60 years without sex predilection.1-9 Its estimated prevalence ranges from 0.02 to 0.10%.2,8 The disease can manifest in either a nonproliferative or proliferative phase; the latter is far less common. The etiology of MacTel2 is poorly understood, but it is believed to have neurodegenerative as well as vascular components.1-6,8-10 We present a case of MacTel2 and highlight the role of diagnostic imaging in early diagnosis prior to development of classic funduscopic features.
Case Presentation
A 66-year-old White male with a 10-year history of type 2 diabetes mellitus (T2DM) presented to the eye clinic for an annual eye examination. The patient was taking metformin, and 6 months prior to presentation, his hemoglobin A1c was 7.4%. He had a history of mild nonproliferative diabetic retinopathy in the left eye without diabetic macular edema. He reported no ocular concerns.
On examination, best-corrected visual acuity (VA) was 20/20 in each eye. Slit-lamp examination was notable only for bilateral mild nuclear sclerosis. Dilated fundus examination showed a blunted foveal reflex consistent with the appearance of a macular pseudo-hole in the right eye and was unremarkable in the left eye (Figure 1).
Macular optical coherence tomography (OCT) revealed an intraretinal cyst without thickening in the temporal fovea of both eyes with mild disruption of the underlying ellipsoid zone in the right eye (Figure 2). A presumptive diagnosis of MacTel2 vs diabetic macular edema was made, and the patient was referred to the retina clinic for further evaluation.
At the 1-month follow-up in the retina clinic, VA, macula OCT, and fundus examination were stable. Fundus autofluorescence (FAF), optical coherence tomography angiography (OCT-A), and fluorescein angiography (FA) were performed. The FAF revealed a hyperreflective crescent in the temporal aspect of the fovea of both eyes, greater in the right eye than the left (Figure 3). The OCT-A showed abnormal dilation of the vessels in the deep capillary plexus of the temporal fovea of both eyes (Figure 4). This area of abnormality correlated to the area of hyperreflectivity seen on FAF. The early- phase FA revealed telangiectatic vessels in the temporal fovea in both eyes; in the late phase, there was leakage of telangiectatic vessels, which remained localized to the temporal perifovea and spared the central fovea of both eyes (Figure 5). The patient was diagnosed with MacTel2.
Discussion
This case highlights several important management considerations in MacTel2. These include symptoms, disease stage, and diagnostic imaging, which can allow more precise staging of the disease.
The etiology of MacTel2 is unknown.6 It is believed to be primarily a neurodegenerative condition that damages Müller cells and photoreceptors, leading to vascular changes.1-6,8-10 Müller cells may play a role in creating and maintaining the integrity of the blood-retinal barrier, particularly in the deep capillary plexus where the vascular abnormalities begin.6,10 These early changes in the deep capillary plexus may evolve to include the superficial capillary plexus in intermediate stages with anastomoses forming between the 2 layers.2,6-10 Late proliferative stages show significant alterations of the juxtafoveal capillary network, subretinal neovascularization and retinochoroidal anastomoses.6,7,9,11 In one cohort study, 81% of patients with MacTel2 were White, and a genetic link is still under investigation.2,4-9
Presentation
The most common symptoms of MacTel2 include blurred vision, microscotoma, metamorphopsia, and difficulty reading, with missing or distorted letters a common concern.1,2,4-8 Best-corrected VA at presentation is usually better than 20/30, and disease progression tends to be slow.2,6 Microscotomata are best mapped with microperimetry.1-3,5-7
There are several classic fundus findings (Table). In the early stages, these findings are subtle or entirely absent funduscopically.1,2,4-10 In intermediate stages, fundus findings become apparent and include a loss of retinal clarity (grayish perifoveal sheen), telangiectatic macular vessels, retinal pigment epithelium hypertrophy, blunted right-angled vessels, and superficial retinal crystalline deposits.2,4-11 Right-angled vessels may have a greater association with choroidal neovascularization, with growth into the outer retina in particular being a marker of disease progression.9 The crystalline deposits have been hypothesized to be the footplates of degenerated Müller cells.6
An important vision-threatening complication of MacTel2 is progression to proliferative disease.1,2,5-10 Choroidal neovascularization is present in a minority of cases and is associated with rapid vision loss.2,6 It is often accompanied by subretinal hemorrhage and lipid exudation.6,7,9 If untreated, the result can be disciform scarring and fibrosis.2,5,6 Additional complications of MacTel2 are foveal atrophy and full thickness macular holes.1,2,4-8, Macular holes secondary to MacTel2 respond poorly to pars plana vitrectomy with inner limiting membrane (ILM) peel.2,6
Diagnostic Testing
Diagnostic retinal imaging is invaluable in the diagnosis of MacTel2. The OCT can detect hyporeflectivity within the ellipsoid zone in early disease corresponding to ellipsoid zone loss, which increases as the disease progresses.1-8,10 This loss most often begins in the temporal parafoveal region and correlates with the progression of both relative and absolute scotomas perceived by affected individuals.2,3,5,8
Intraretinal foveal hyporeflective spaces on the OCT represent cavity formation after Müller cell and photoreceptor loss and do not correlate with increased thickness.1,2,4,6,7 This is important in differentiating from diabetic macular edema, which will often show thickening.6 In most cases of MacTel2, foveal thickness is decreased.4-6 The ILM remains intact overlying this space and is referred to as ILM drape.6,7 This can cause blunting or absence of the foveal light reflex and mimic the appearance of a macular pseudohole.4
The OCT-A allows visualization of capillary changes through every layer of the retina, which could not otherwise be appreciated, allowing early detection as well as precise staging of the disease.2,6-10 Anastomoses present in late-stage disease also can be imaged using OCT-A.7,9 These anastomoses can be seen as hyperreflective vasculature present between the retinal layers where there is little to no vasculature visible in normal eyes.7
A lesser-known occurrence in MacTel2 is the depletion of macular luteal pigment, with many eyes possessing an abnormal distribution.2,4,6-8,10 This depletion and abnormal distribution can be visualized with FAF. In particular, short wavelength fundus autofluorescence (SW-FAF) is the most effective at highlighting these changes.10 The characteristic finding is a hyperreflective halo surrounding the fovea.2,6 Fluorescence life imaging ophthalmoscopy (FLIO) is a recent development in FAF that measures FAF lifetime, which is the duration of time a structure autofluoresces.8 A cross-sectional study published in 2018 showed prolonged FAF lifetime in the temporal fovea of patients with early and moderate stage MacTel2 when compared with normal patients.8 More advanced stages showed a ring encircling the entire fovea.8
Classic FA findings in MacTel2 include early hyperfluorescence of temporal foveal telangiectatic capillaries and late-stage leakage with sparing of the central fovea.1,2,4,6,7,11
Management and Prognosis
Management of MacTel2 depends on the stage of the disease. In the absence of proven treatment, management in nonproliferative stages is conservative.2,6 Intravitreal anti-VEGF does not offer any benefit in nonproliferative disease.2,5,6 Indeed, as VEGF may have a neuroprotective effect on the retina, anti-VEGF may result in more harm than benefit in earlier disease stages.5 In proliferative stages, intravitreal anti-VEGF can help limit scarring and prevent vision loss.2,5
Long-term prognosis of MacTel2 is variable with VA typically better than 20/100.2 Vision loss in MacTel2 most often begins paracentrally; it can then progress centrally, leading to significant reduction in VA.12 The progression of this functional vision loss and corresponding structural damage is typically slow.3 VA worse than 20/100 is usually a result of proliferative disease; in such cases, there is potential for severe central vision loss and legal blindness.1
Conclusions
This case of MacTel2 underscores the subtle retinal findings in the earliest stages of the disease and the importance of a complete retinal examination and diagnostic imaging with macula OCT, OCT-A, and FAF to establish the correct diagnosis.
1. Chew EY, Clemons TE, Jaffe GJ, et al. Effect of ciliary neurotrophic factor on retinal neurodegeneration in patients with macular telangiectasia type 2: a randomized clinical trial. Ophthalmology. 2019;126(4):540-549. doi:10.1016/j.ophtha.2018.09.041
2. Christakis PG, Fine HF, Wiley HE. The diagnosis and management of macular telangiectasia. Ophthalmic Surg Lasers Imaging Retina. 2019;50(3):139-144. doi:10.3928/23258160-20190301-02
3. Heeren TFC, Kitka D, Florea D, et al. Longitudinal correlation of ellipsoid zone loss and functional loss in macular telangiectasia type 2. Retina. 2018;38 Suppl 1(suppl 1):S20-S26. doi:10.1097/IAE.0000000000001715
4. Charbel Issa P, Heeren TF, Kupitz EH, Holz FG, Berendschot TT. Very early disease manifestations of macular telangiectasia type 2. Retina. 2016;36(3):524-534. doi:10.1097/IAE.0000000000000863
5. Khodabande A, Roohipoor R, Zamani J, et al. Management of idiopathic macular telangiectasia type 2. Ophthalmol Ther. 2019;8(2):155-175. doi:10.1007/s40123-019-0170-1
6. Wu L. When is macular edema not macular edema? An update on macular telangiectasia type 2. Taiwan J Ophthalmol. 2015;5(4):149-155. doi:10.1016/j.tjo.2015.09.001
7. Roisman L, Rosenfeld PJ. Optical Coherence Tomography Angiography of Macular Telangiectasia Type 2. Dev Ophthalmol. 2016;56:146-158. doi:10.1159/000442807
8. Sauer L, Gensure RH, Hammer M, Bernstein PS. Fluorescence lifetime imaging ophthalmoscopy: a novel way to assess macular telangiectasia type 2. Ophthalmol Retina. 2018;2(6):587-598. doi:10.1016/j.oret.2017.10.008
9. Tzaridis S, Heeren T, Mai C, et al. Right-angled vessels in macular telangiectasia type 2. Br J Ophthalmol. 2021;105(9):1289-1296. doi:10.1136/bjophthalmol-2018-313364
10. Micevych PS, Lee HE, Fawzi AA. Overlap between telangiectasia and photoreceptor loss increases with progression of macular telangiectasia type 2. PLoS One. 2019;14(10):e0224393. Published 2019 Oct 28. doi:10.1371/journal.pone.0224393
11. Gass JD, Oyakawa RT. Idiopathic juxtafoveolar retinal telangiectasis. Arch Ophthalmol. 1982;100(5):769-780. doi:10.1001/archopht.1982.01030030773010
12. Heeren TF, Clemons T, Scholl HP, Bird AC, Holz FG, Charbel Issa P. Progression of vision loss in macular telangiectasia type 2. Invest Ophthalmol Vis Sci. 2015;56(6):3905-3912. doi:10.1167/iovs.15-16915
1. Chew EY, Clemons TE, Jaffe GJ, et al. Effect of ciliary neurotrophic factor on retinal neurodegeneration in patients with macular telangiectasia type 2: a randomized clinical trial. Ophthalmology. 2019;126(4):540-549. doi:10.1016/j.ophtha.2018.09.041
2. Christakis PG, Fine HF, Wiley HE. The diagnosis and management of macular telangiectasia. Ophthalmic Surg Lasers Imaging Retina. 2019;50(3):139-144. doi:10.3928/23258160-20190301-02
3. Heeren TFC, Kitka D, Florea D, et al. Longitudinal correlation of ellipsoid zone loss and functional loss in macular telangiectasia type 2. Retina. 2018;38 Suppl 1(suppl 1):S20-S26. doi:10.1097/IAE.0000000000001715
4. Charbel Issa P, Heeren TF, Kupitz EH, Holz FG, Berendschot TT. Very early disease manifestations of macular telangiectasia type 2. Retina. 2016;36(3):524-534. doi:10.1097/IAE.0000000000000863
5. Khodabande A, Roohipoor R, Zamani J, et al. Management of idiopathic macular telangiectasia type 2. Ophthalmol Ther. 2019;8(2):155-175. doi:10.1007/s40123-019-0170-1
6. Wu L. When is macular edema not macular edema? An update on macular telangiectasia type 2. Taiwan J Ophthalmol. 2015;5(4):149-155. doi:10.1016/j.tjo.2015.09.001
7. Roisman L, Rosenfeld PJ. Optical Coherence Tomography Angiography of Macular Telangiectasia Type 2. Dev Ophthalmol. 2016;56:146-158. doi:10.1159/000442807
8. Sauer L, Gensure RH, Hammer M, Bernstein PS. Fluorescence lifetime imaging ophthalmoscopy: a novel way to assess macular telangiectasia type 2. Ophthalmol Retina. 2018;2(6):587-598. doi:10.1016/j.oret.2017.10.008
9. Tzaridis S, Heeren T, Mai C, et al. Right-angled vessels in macular telangiectasia type 2. Br J Ophthalmol. 2021;105(9):1289-1296. doi:10.1136/bjophthalmol-2018-313364
10. Micevych PS, Lee HE, Fawzi AA. Overlap between telangiectasia and photoreceptor loss increases with progression of macular telangiectasia type 2. PLoS One. 2019;14(10):e0224393. Published 2019 Oct 28. doi:10.1371/journal.pone.0224393
11. Gass JD, Oyakawa RT. Idiopathic juxtafoveolar retinal telangiectasis. Arch Ophthalmol. 1982;100(5):769-780. doi:10.1001/archopht.1982.01030030773010
12. Heeren TF, Clemons T, Scholl HP, Bird AC, Holz FG, Charbel Issa P. Progression of vision loss in macular telangiectasia type 2. Invest Ophthalmol Vis Sci. 2015;56(6):3905-3912. doi:10.1167/iovs.15-16915
Peripheral Exudative Hemorrhagic Chorioretinopathy in Patients With Nonexudative Age-Related Macular Degeneration
Age-related macular degeneration (AMD) is a common condition that affects the elderly white population. About 6.5% of Americans have been diagnosed with AMD, and 0.8% have received an end-stage AMD diagnosis.1 Exudative AMD is typically more visually debilitating and comprises between 10% and 15% of all AMD cases, with conversion from dry to wet about 10%.1
A thorough examination of the posterior pole is of utmost importance in patients with dry AMD in order to ensure there is no conversion to the exudative form. However, it also is imperative to perform a peripheral evaluation in these patients due to the incidence of peripheral choroidal neovascular membrane (CNVM) and its potential visual significance.
Case Report 1
An 80-year-old white male with type 2 diabetes mellitus (DM) without retinopathy, dry AMD, and epiretinal membranes (ERM) in both eyes presented to the eye clinic for a 6-month follow-up. On examination, he had visual acuity (VA) of 20/25 in both eyes and reported no ocular problems. The intraocular pressures were 17 mm Hg in the right eye and 20 mm Hg in the left eye. Slit-lamp examination of the anterior segment of both eyes was significant for 2+ nuclear sclerotic cataracts.
On dilated fundus exam, there were macular drusen and ERM in both eyes; peripherally in the right eye, there was cobblestone degeneration and pigmentary changes. Peripherally in the left eye, there was a large retinal pigment epithelial detachment (PED) with subretinal hemorrhage in the inferior temporal quadrant (Figure 1) along with cobblestone degeneration and pigmentary changes. Peripheral optical coherence tomography (OCT) in the left eye showed a large PED in the location of the hemorrhage (Figure 2).
Case Report 2
An 88-year-old white male presented to the eye clinic reporting blurred vision at distance and dry eyes. The patient’s medical history was remarkable for vascular and heart disease, treated with warfarin. The patient also had insulin controlled DM, with no prior history of retinopathy. His past ocular history included hard drusen in the macula, peripheral drusen, pavingstone degeneration, and a fibrotic scar temporally in the right eye.
At his annual eye examination, the patient’s vision was correctable to 20/25 in both eyes. His anterior segment slit-lamp exam was remarkable for posterior chamber intraocular lenses, clear and centered in each eye. His posterior pole exam was remarkable for small hard drusen at the macula in both eyes. Peripherally in the right eye, there was a large disciform fibrotic scar temporally (Figure 3) as well as cobblestone degeneration and peripheral drusen. The left eye revealed a large disciform hemorrhage temporally (Figure 4) with cobblestone degeneration and peripheral drusen.
Both patients currently are being closely monitored for any encroachment of the peripheral lesions into the posterior poles.
Discussion
Peripheral exudative hemorrhagic chorioretinopathy (PEHCR), also referred to in the literature as eccentric disciform CNVM, peripheral CNVM, and peripheral age-related degeneration, is a rare condition more prevalent in elderly white females.2-4 Mean age ranges from 70 to 82 years, with bilateral involvement ranging from 18% to 37%.2-4 The mid-periphery or periphery is the most common location for these lesions, more specifically, in the inferior temporal quadrant.2,3,5,6
Age-related macular degeneration is not pathognomonic for PEHCR. Mantel and colleagues reported that 68.9% of the patients in their study had AMD.3 Visual acuity ranges from 20/20 to light perception, dependent upon ocular comorbidities.2,3 As reported by Mantel and colleagues, patients with symptomatic PEHCR commonly experience visual loss, floaters, photopsias, metamorphopsia, and scotoma.3
Peripheral exudative hemorrhagic chorioretinopathy is a hemorrhagic or exudative process that can occur either as an isolated lesion or as multiple lesions that consist of a PED along with hemorrhage, subretinal fluid and/or fibrotic scarring.2-5 Peripheral exudative hemorrhagic chorioretinopathy is not visually significant unless a vitreous hemorrhage is evident or the blood and/or fluid extends to the macular region.2,5
The exact etiology of peripheral CNVM remains unknown; however, ischemia, mechanical forces, and defects in Bruch’s membrane all have been speculated as causative factors.2,3,6 Others have hypothesized that PEHCR is a form of polypoidal choroidal vasculopathy.3,7,8 A rupture in Bruch’s membrane with a vascular complex contributes to the pathophysiology and histology of this condition.3,6
Given the propensity for cardiovascular diseases, such as DM and hypertension, to lead to retinal ischemia, it is important to take a good case history.2,4,6 Additionally, anticoagulants have been shown to exacerbate bleeding.2,5 Due to PEHCR’s location in the periphery, as well as its appearance as an elevated dark mass, it is important to differentiate these lesions from a choroidal melanoma.2,6 Recognition of PEHCR can save the patient from unnecessary treatment with radiation or enucleation.
Peripheral exudative hemorrhagic chorioretinopathy is a self-limiting condition that generally requires close observation only. Long-term follow-up studies show resolution, regression, or stability of the peripheral lesions.4,5,8 If a hemorrhage is present, the blood will resolve and leave a disciform scar with pigmentary changes.2-4 In cases where vision is threatened, CNVM has been treated with photocoagulation, cryopexy, and more recently, intravitreal anti-VEGF injections.4,5,9,10 Given that VEGF is more prevalent in the presence of a choroidal neovascular complex, the goal of anti-VEGF therapy is to prevent the growth of and further damage from these abnormal blood vessels.5
Conclusion
The authors have described 2 cases of asymptomatic PEHCR in elderly white males who are both currently being observed closely. Peripheral exudative hemorrhagic chorioretinopathy is an uncommon finding; therefore, knowledge of this condition also may be rare. Through this article and these cases, the importance of routine peripheral fundus examination to detect PEHCR should be stressed. It also is important to include PEHCR as a differential diagnosis when evaluating a peripheral dark elevated lesion to distinguish from peripheral melanomas and avoid unnecessary treatments. If identified, these lesions often require close observation only, and a retina referral is warranted if there is macular involvement or a rapidly progressive lesion.5
1. Pron G. Optical coherence tomography monitoring strategies for A-VEGF–treated age-related macular degeneration: an evidence-based analysis. Ont Health Technol Assess Ser. 2014;14(10):1–64.
2. Annesley WH Jr. Peripheral exudative hemorrhagic chorioretinopathy. Trans Am Ophthalmol Soc. 1980;78:321-364.
3. Mantel I, Uffer S, Zografos L. Peripheral exudative hemorrhagic chorioretinopathy: a clinical angiographic, and histologic study. Am J Ophthalmol. 2009;148(6):932-938.
4. Pinarci EY, Kilic I, Bayar SA, Sizmaz S, Akkoyun I, Yilmaz G. Clinical characteristics of peripheral exudative hemorrhagic chorioretinopathy and its response to bevacizumab therapy. Eye (Lond). 2013;27(1):111-112.
5. Seibel I, Hager A, Duncker T, et al. Anti-VEGF therapy in symptomatic peripheral exudative hemorrhagic chorioretinopathy (PEHCR) involving the macula. Graefes Arch Clin Exp Ophthalmol. 2016;254(4):653-659.
6. Collaer N, James C. Peripheral exudative and hemorrhagic chorio-retinopathy…the peripheral form of age-related macular degeneration? Report on 2 cases. Bull Soc Belge Ophtalmol. 2007;(305):23-26.
7. Goldman DR, Freund KB, McCannel CA, Sarraf D. Peripheral polypoidal choroidal vasculopathy as a cause of peripheral exudative hemorrhagic chorioretinopathy: A report of 10 eyes. Retina. 2013;33(1):48-55.
8. Mashayekhi A, Shields CL, Shields JA. Peripheral exudative hemorrhagic chorioretinopathy: a variant of polypoidal choroidal vasculopathy? J Ophthalmic Vis Res. 2013;8(3):264-267.
9. Takayama K, Enoki T, Kojima T, Ishikawa S, Takeuchi M. Treatment of peripheral exudative hemorrhagic chorioretinopathy by intravitreal injections of ranibizumab. Clin Ophthalmol. 2012;6:865-869.
10. Barkmeier AJ, Kadikoy H, Holz ER, Carvounis PE. Regression of serous macular detachment due to peripheral exudative hemorrhagic chorioretinopathy following intravitreal bevacizumab. Eur J Ophthalmol. 2011;21(4):506-508.
Age-related macular degeneration (AMD) is a common condition that affects the elderly white population. About 6.5% of Americans have been diagnosed with AMD, and 0.8% have received an end-stage AMD diagnosis.1 Exudative AMD is typically more visually debilitating and comprises between 10% and 15% of all AMD cases, with conversion from dry to wet about 10%.1
A thorough examination of the posterior pole is of utmost importance in patients with dry AMD in order to ensure there is no conversion to the exudative form. However, it also is imperative to perform a peripheral evaluation in these patients due to the incidence of peripheral choroidal neovascular membrane (CNVM) and its potential visual significance.
Case Report 1
An 80-year-old white male with type 2 diabetes mellitus (DM) without retinopathy, dry AMD, and epiretinal membranes (ERM) in both eyes presented to the eye clinic for a 6-month follow-up. On examination, he had visual acuity (VA) of 20/25 in both eyes and reported no ocular problems. The intraocular pressures were 17 mm Hg in the right eye and 20 mm Hg in the left eye. Slit-lamp examination of the anterior segment of both eyes was significant for 2+ nuclear sclerotic cataracts.
On dilated fundus exam, there were macular drusen and ERM in both eyes; peripherally in the right eye, there was cobblestone degeneration and pigmentary changes. Peripherally in the left eye, there was a large retinal pigment epithelial detachment (PED) with subretinal hemorrhage in the inferior temporal quadrant (Figure 1) along with cobblestone degeneration and pigmentary changes. Peripheral optical coherence tomography (OCT) in the left eye showed a large PED in the location of the hemorrhage (Figure 2).
Case Report 2
An 88-year-old white male presented to the eye clinic reporting blurred vision at distance and dry eyes. The patient’s medical history was remarkable for vascular and heart disease, treated with warfarin. The patient also had insulin controlled DM, with no prior history of retinopathy. His past ocular history included hard drusen in the macula, peripheral drusen, pavingstone degeneration, and a fibrotic scar temporally in the right eye.
At his annual eye examination, the patient’s vision was correctable to 20/25 in both eyes. His anterior segment slit-lamp exam was remarkable for posterior chamber intraocular lenses, clear and centered in each eye. His posterior pole exam was remarkable for small hard drusen at the macula in both eyes. Peripherally in the right eye, there was a large disciform fibrotic scar temporally (Figure 3) as well as cobblestone degeneration and peripheral drusen. The left eye revealed a large disciform hemorrhage temporally (Figure 4) with cobblestone degeneration and peripheral drusen.
Both patients currently are being closely monitored for any encroachment of the peripheral lesions into the posterior poles.
Discussion
Peripheral exudative hemorrhagic chorioretinopathy (PEHCR), also referred to in the literature as eccentric disciform CNVM, peripheral CNVM, and peripheral age-related degeneration, is a rare condition more prevalent in elderly white females.2-4 Mean age ranges from 70 to 82 years, with bilateral involvement ranging from 18% to 37%.2-4 The mid-periphery or periphery is the most common location for these lesions, more specifically, in the inferior temporal quadrant.2,3,5,6
Age-related macular degeneration is not pathognomonic for PEHCR. Mantel and colleagues reported that 68.9% of the patients in their study had AMD.3 Visual acuity ranges from 20/20 to light perception, dependent upon ocular comorbidities.2,3 As reported by Mantel and colleagues, patients with symptomatic PEHCR commonly experience visual loss, floaters, photopsias, metamorphopsia, and scotoma.3
Peripheral exudative hemorrhagic chorioretinopathy is a hemorrhagic or exudative process that can occur either as an isolated lesion or as multiple lesions that consist of a PED along with hemorrhage, subretinal fluid and/or fibrotic scarring.2-5 Peripheral exudative hemorrhagic chorioretinopathy is not visually significant unless a vitreous hemorrhage is evident or the blood and/or fluid extends to the macular region.2,5
The exact etiology of peripheral CNVM remains unknown; however, ischemia, mechanical forces, and defects in Bruch’s membrane all have been speculated as causative factors.2,3,6 Others have hypothesized that PEHCR is a form of polypoidal choroidal vasculopathy.3,7,8 A rupture in Bruch’s membrane with a vascular complex contributes to the pathophysiology and histology of this condition.3,6
Given the propensity for cardiovascular diseases, such as DM and hypertension, to lead to retinal ischemia, it is important to take a good case history.2,4,6 Additionally, anticoagulants have been shown to exacerbate bleeding.2,5 Due to PEHCR’s location in the periphery, as well as its appearance as an elevated dark mass, it is important to differentiate these lesions from a choroidal melanoma.2,6 Recognition of PEHCR can save the patient from unnecessary treatment with radiation or enucleation.
Peripheral exudative hemorrhagic chorioretinopathy is a self-limiting condition that generally requires close observation only. Long-term follow-up studies show resolution, regression, or stability of the peripheral lesions.4,5,8 If a hemorrhage is present, the blood will resolve and leave a disciform scar with pigmentary changes.2-4 In cases where vision is threatened, CNVM has been treated with photocoagulation, cryopexy, and more recently, intravitreal anti-VEGF injections.4,5,9,10 Given that VEGF is more prevalent in the presence of a choroidal neovascular complex, the goal of anti-VEGF therapy is to prevent the growth of and further damage from these abnormal blood vessels.5
Conclusion
The authors have described 2 cases of asymptomatic PEHCR in elderly white males who are both currently being observed closely. Peripheral exudative hemorrhagic chorioretinopathy is an uncommon finding; therefore, knowledge of this condition also may be rare. Through this article and these cases, the importance of routine peripheral fundus examination to detect PEHCR should be stressed. It also is important to include PEHCR as a differential diagnosis when evaluating a peripheral dark elevated lesion to distinguish from peripheral melanomas and avoid unnecessary treatments. If identified, these lesions often require close observation only, and a retina referral is warranted if there is macular involvement or a rapidly progressive lesion.5
Age-related macular degeneration (AMD) is a common condition that affects the elderly white population. About 6.5% of Americans have been diagnosed with AMD, and 0.8% have received an end-stage AMD diagnosis.1 Exudative AMD is typically more visually debilitating and comprises between 10% and 15% of all AMD cases, with conversion from dry to wet about 10%.1
A thorough examination of the posterior pole is of utmost importance in patients with dry AMD in order to ensure there is no conversion to the exudative form. However, it also is imperative to perform a peripheral evaluation in these patients due to the incidence of peripheral choroidal neovascular membrane (CNVM) and its potential visual significance.
Case Report 1
An 80-year-old white male with type 2 diabetes mellitus (DM) without retinopathy, dry AMD, and epiretinal membranes (ERM) in both eyes presented to the eye clinic for a 6-month follow-up. On examination, he had visual acuity (VA) of 20/25 in both eyes and reported no ocular problems. The intraocular pressures were 17 mm Hg in the right eye and 20 mm Hg in the left eye. Slit-lamp examination of the anterior segment of both eyes was significant for 2+ nuclear sclerotic cataracts.
On dilated fundus exam, there were macular drusen and ERM in both eyes; peripherally in the right eye, there was cobblestone degeneration and pigmentary changes. Peripherally in the left eye, there was a large retinal pigment epithelial detachment (PED) with subretinal hemorrhage in the inferior temporal quadrant (Figure 1) along with cobblestone degeneration and pigmentary changes. Peripheral optical coherence tomography (OCT) in the left eye showed a large PED in the location of the hemorrhage (Figure 2).
Case Report 2
An 88-year-old white male presented to the eye clinic reporting blurred vision at distance and dry eyes. The patient’s medical history was remarkable for vascular and heart disease, treated with warfarin. The patient also had insulin controlled DM, with no prior history of retinopathy. His past ocular history included hard drusen in the macula, peripheral drusen, pavingstone degeneration, and a fibrotic scar temporally in the right eye.
At his annual eye examination, the patient’s vision was correctable to 20/25 in both eyes. His anterior segment slit-lamp exam was remarkable for posterior chamber intraocular lenses, clear and centered in each eye. His posterior pole exam was remarkable for small hard drusen at the macula in both eyes. Peripherally in the right eye, there was a large disciform fibrotic scar temporally (Figure 3) as well as cobblestone degeneration and peripheral drusen. The left eye revealed a large disciform hemorrhage temporally (Figure 4) with cobblestone degeneration and peripheral drusen.
Both patients currently are being closely monitored for any encroachment of the peripheral lesions into the posterior poles.
Discussion
Peripheral exudative hemorrhagic chorioretinopathy (PEHCR), also referred to in the literature as eccentric disciform CNVM, peripheral CNVM, and peripheral age-related degeneration, is a rare condition more prevalent in elderly white females.2-4 Mean age ranges from 70 to 82 years, with bilateral involvement ranging from 18% to 37%.2-4 The mid-periphery or periphery is the most common location for these lesions, more specifically, in the inferior temporal quadrant.2,3,5,6
Age-related macular degeneration is not pathognomonic for PEHCR. Mantel and colleagues reported that 68.9% of the patients in their study had AMD.3 Visual acuity ranges from 20/20 to light perception, dependent upon ocular comorbidities.2,3 As reported by Mantel and colleagues, patients with symptomatic PEHCR commonly experience visual loss, floaters, photopsias, metamorphopsia, and scotoma.3
Peripheral exudative hemorrhagic chorioretinopathy is a hemorrhagic or exudative process that can occur either as an isolated lesion or as multiple lesions that consist of a PED along with hemorrhage, subretinal fluid and/or fibrotic scarring.2-5 Peripheral exudative hemorrhagic chorioretinopathy is not visually significant unless a vitreous hemorrhage is evident or the blood and/or fluid extends to the macular region.2,5
The exact etiology of peripheral CNVM remains unknown; however, ischemia, mechanical forces, and defects in Bruch’s membrane all have been speculated as causative factors.2,3,6 Others have hypothesized that PEHCR is a form of polypoidal choroidal vasculopathy.3,7,8 A rupture in Bruch’s membrane with a vascular complex contributes to the pathophysiology and histology of this condition.3,6
Given the propensity for cardiovascular diseases, such as DM and hypertension, to lead to retinal ischemia, it is important to take a good case history.2,4,6 Additionally, anticoagulants have been shown to exacerbate bleeding.2,5 Due to PEHCR’s location in the periphery, as well as its appearance as an elevated dark mass, it is important to differentiate these lesions from a choroidal melanoma.2,6 Recognition of PEHCR can save the patient from unnecessary treatment with radiation or enucleation.
Peripheral exudative hemorrhagic chorioretinopathy is a self-limiting condition that generally requires close observation only. Long-term follow-up studies show resolution, regression, or stability of the peripheral lesions.4,5,8 If a hemorrhage is present, the blood will resolve and leave a disciform scar with pigmentary changes.2-4 In cases where vision is threatened, CNVM has been treated with photocoagulation, cryopexy, and more recently, intravitreal anti-VEGF injections.4,5,9,10 Given that VEGF is more prevalent in the presence of a choroidal neovascular complex, the goal of anti-VEGF therapy is to prevent the growth of and further damage from these abnormal blood vessels.5
Conclusion
The authors have described 2 cases of asymptomatic PEHCR in elderly white males who are both currently being observed closely. Peripheral exudative hemorrhagic chorioretinopathy is an uncommon finding; therefore, knowledge of this condition also may be rare. Through this article and these cases, the importance of routine peripheral fundus examination to detect PEHCR should be stressed. It also is important to include PEHCR as a differential diagnosis when evaluating a peripheral dark elevated lesion to distinguish from peripheral melanomas and avoid unnecessary treatments. If identified, these lesions often require close observation only, and a retina referral is warranted if there is macular involvement or a rapidly progressive lesion.5
1. Pron G. Optical coherence tomography monitoring strategies for A-VEGF–treated age-related macular degeneration: an evidence-based analysis. Ont Health Technol Assess Ser. 2014;14(10):1–64.
2. Annesley WH Jr. Peripheral exudative hemorrhagic chorioretinopathy. Trans Am Ophthalmol Soc. 1980;78:321-364.
3. Mantel I, Uffer S, Zografos L. Peripheral exudative hemorrhagic chorioretinopathy: a clinical angiographic, and histologic study. Am J Ophthalmol. 2009;148(6):932-938.
4. Pinarci EY, Kilic I, Bayar SA, Sizmaz S, Akkoyun I, Yilmaz G. Clinical characteristics of peripheral exudative hemorrhagic chorioretinopathy and its response to bevacizumab therapy. Eye (Lond). 2013;27(1):111-112.
5. Seibel I, Hager A, Duncker T, et al. Anti-VEGF therapy in symptomatic peripheral exudative hemorrhagic chorioretinopathy (PEHCR) involving the macula. Graefes Arch Clin Exp Ophthalmol. 2016;254(4):653-659.
6. Collaer N, James C. Peripheral exudative and hemorrhagic chorio-retinopathy…the peripheral form of age-related macular degeneration? Report on 2 cases. Bull Soc Belge Ophtalmol. 2007;(305):23-26.
7. Goldman DR, Freund KB, McCannel CA, Sarraf D. Peripheral polypoidal choroidal vasculopathy as a cause of peripheral exudative hemorrhagic chorioretinopathy: A report of 10 eyes. Retina. 2013;33(1):48-55.
8. Mashayekhi A, Shields CL, Shields JA. Peripheral exudative hemorrhagic chorioretinopathy: a variant of polypoidal choroidal vasculopathy? J Ophthalmic Vis Res. 2013;8(3):264-267.
9. Takayama K, Enoki T, Kojima T, Ishikawa S, Takeuchi M. Treatment of peripheral exudative hemorrhagic chorioretinopathy by intravitreal injections of ranibizumab. Clin Ophthalmol. 2012;6:865-869.
10. Barkmeier AJ, Kadikoy H, Holz ER, Carvounis PE. Regression of serous macular detachment due to peripheral exudative hemorrhagic chorioretinopathy following intravitreal bevacizumab. Eur J Ophthalmol. 2011;21(4):506-508.
1. Pron G. Optical coherence tomography monitoring strategies for A-VEGF–treated age-related macular degeneration: an evidence-based analysis. Ont Health Technol Assess Ser. 2014;14(10):1–64.
2. Annesley WH Jr. Peripheral exudative hemorrhagic chorioretinopathy. Trans Am Ophthalmol Soc. 1980;78:321-364.
3. Mantel I, Uffer S, Zografos L. Peripheral exudative hemorrhagic chorioretinopathy: a clinical angiographic, and histologic study. Am J Ophthalmol. 2009;148(6):932-938.
4. Pinarci EY, Kilic I, Bayar SA, Sizmaz S, Akkoyun I, Yilmaz G. Clinical characteristics of peripheral exudative hemorrhagic chorioretinopathy and its response to bevacizumab therapy. Eye (Lond). 2013;27(1):111-112.
5. Seibel I, Hager A, Duncker T, et al. Anti-VEGF therapy in symptomatic peripheral exudative hemorrhagic chorioretinopathy (PEHCR) involving the macula. Graefes Arch Clin Exp Ophthalmol. 2016;254(4):653-659.
6. Collaer N, James C. Peripheral exudative and hemorrhagic chorio-retinopathy…the peripheral form of age-related macular degeneration? Report on 2 cases. Bull Soc Belge Ophtalmol. 2007;(305):23-26.
7. Goldman DR, Freund KB, McCannel CA, Sarraf D. Peripheral polypoidal choroidal vasculopathy as a cause of peripheral exudative hemorrhagic chorioretinopathy: A report of 10 eyes. Retina. 2013;33(1):48-55.
8. Mashayekhi A, Shields CL, Shields JA. Peripheral exudative hemorrhagic chorioretinopathy: a variant of polypoidal choroidal vasculopathy? J Ophthalmic Vis Res. 2013;8(3):264-267.
9. Takayama K, Enoki T, Kojima T, Ishikawa S, Takeuchi M. Treatment of peripheral exudative hemorrhagic chorioretinopathy by intravitreal injections of ranibizumab. Clin Ophthalmol. 2012;6:865-869.
10. Barkmeier AJ, Kadikoy H, Holz ER, Carvounis PE. Regression of serous macular detachment due to peripheral exudative hemorrhagic chorioretinopathy following intravitreal bevacizumab. Eur J Ophthalmol. 2011;21(4):506-508.