The authors provide evidence that two abnormal BEST1 alleles, neither of which causes macular disease alone, can act in concert to cause early-onset vitelliform macular dystrophy.
BACKGROUND AND OBJECTIVE:
To provide new insights into toxic maculopathy secondary to pentosan polysulfate (PPS) utilizing multimodal testing.
PATIENTS AND METHODS:
Retrospective case-series of four patients from two academic centers evaluated with multimodal imaging, electrophysiology, dark adaptometry (DA), and genetic testing.
RESULTS:
Median age was 58 years, exposure to PPS was 18.5 years, and cumulative dose of was 2,025 grams. Seven of eight eyes had visual acuity of 20/40 or better. Optical coherence tomography (OCT) angiography demonstrated increased choriocapillaris flow voids (54.25%) in cases compared to controls (13.2%). Two subjects had abnormal foveal avascular zone configurations. Two subjects demonstrated collapse of the retinal pigment epithelium nodular excrescences and progressive retinal thinning over 4 to 5 years on OCT. Electrophysiology was normal (3/3 patients), but DA was delayed (2/2 patients).
CONCLUSIONS:
The authors describe novel findings of PPS maculopathy, including flow voids in the choriocapillaris. Progressive retinal thinning may suggest a secondary retinal effect. These findings may improve understanding of the pathophysiology.
[
Ophthalmic Surg Lasers Imaging Retina
. 2021;52:13–22.]
Subretinal neovascular membranes were observed in three patients with chronic membranoproliferative glomerulonephritis type II (dense deposit disease). The first signs of glomerulonephritis occurred at respective ages of 13, 10 and 10 years; subretinal neovascular membranes were noted at respective ages of 25, 32 and 32 years. All patients had bilateral, widespread retinal pigment epithelial abnormalities. Our findings indicate that subretinal neovascularization is a complication of dense deposit disease. In one patient, the early recognition and laser treatment of an extrafoveal subretinal neovascular membrane prevented further loss of vision.
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