Abstract
Purpose :
Familial exudative vitreo-retinopathy (FEVR) is a rare hereditary disease affecting retinal vascular development. We report a novel clinical finding of deeply pigmented clumps mimicking spotted cystic dystrophy findings in a case of FEVR using Fundus fluorescein angiography (FFA), Optical coherence tomography (OCT).
Methods :
A 33-year-old female presented to our clinic with complaints of reduced vision in right eye noticed since 6 months. She was a diagnosed case of familial exudative vitreo-retinopathy (FEVR) with myopia and no past history of prematurity or hospitalization and/or oxygenation after birth and a family history of similar complaints in her mother and maternal grandmother.
Her anterior segment findings were unremarkable with best corrected visual acuity (BCVA) of LogMAR 0.5 right and LogMAR 0.3 in the left eye. Dilated fundus examination of both eyes revealed myopic tilted discs with deeply pigment clumps with surrounding hypo-pigmented haloes and yellowish sub retinal deposits at the fovea and peripheral avascular retina with exudation. Wide field fundus fluorescein angiography (FFA) revealed abnormal foveal vasculature near the pigmented spots with late staining of the foveal lesions. Peripheral retina showed classical FEVR findings of vascular non-perfusion areas in the temporal retina with late peripheral leakage suggestive of exudation. Optical coherence tomography (OCT) scan in the right eye showed altered foveal contour with presences of intraretinal schisis and foveal thinning and left eye showed blunting of the foveal dip with IS-OS junction disruption subfoveally. The scan passing through the pigment clumps showed high-reflectance with back shadowing.
Results :
Both eyes FFA guided peripheral scatter laser was done to the leaking areas. Patient was advised to undergo genetic testing to understand the nature of the inheritance pattern and genetic defect. At the final visits patients BCVA stabilized to LogMAR 0.3 and reduction in retinal schisis was noted on OCT in right eye. The results of genetic testings’ are awaited.
Conclusions :
Our case reports the presence of deeply pigmented clumps at the fovea in association with familial exudative vitreoretinopathy mimicking the pigmented clumps noted in spotted cystic dystrophy which gives new insight to this condition.
This abstract was presented at the 2019 ARVO Imaging in the Eye Conference, held in Vancouver, Canada, April 26-27, 2019.