Abstract

We report a case of 10 years old female presenting with complaint of low vision of 20/60 in right eye and 20/40 in the left eye from last 4 years with no significant family history. Fundus examination showed yellowish subretinal sub foveal lesion with perivascular retinal pigment epithelium (RPE) loss with featureless retina. On optical coherence tomography (OCT) right eye had a CNVM scar while left eye had sub foveal fluid with active CNVM. The patient was advised genetic testing which came positive for clinical exome ESCS NR2E3 gene mutation. RPE changes, photoreceptor dysfunction, and choriocapillaris damage might have created weakness zones for choroidal vessels to grow, leading to neovascularization. The patient was given 4 doses of monthly intravitreal ranibizumab(0.5mg/0.1ml) injections Almost 1 year post injection vision remained stable and OCT did not show evidence of any active CNVM.

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