Central retinal vein occlusion in BEST1-related angle-closure glaucoma in autosomal recessive bestrophinopathy: a...

To report a genetically confirmed case of autosomal recessive bestrophinopathy (ARB) associated with angle-closure glaucoma (ACG) and complicated by central retinal vein occlusion (CRVO).

A 28-year-old man with a history of glaucoma and irregular follow-up presented with decreased vision and underwent comprehensive ophthalmic examination, multimodal imaging, and genetic testing.

Best-corrected visual acuity was 0.1 in the right eye and counting fingers at 1 meter in the left eye. Both eyes demonstrated shallow anterior chambers, closed angles on gonioscopy, and short axial lengths. Fundus examination disclosed multifocal yellowish subretinal deposits in the right eye and dilated tortuous veins, extensive intraretinal hemorrhages, and macular edema in the left eye, consistent with CRVO. Optical coherence tomography showed mild cystoid change in the right eye and marked cystoid macular edema with subretinal fluid in the left eye. Fluorescein angiography revealed peripheral retinal ischemia. The left eye was treated with intravitreal anti-VEGF therapy, panretinal photocoagulation, and subsequently trabeculectomy for uncontrolled intraocular pressure; the right eye later underwent trabeculectomy. Genetic testing identified a homozygous likely pathogenic variant in BEST1. At 1-year follow-up, intraocular pressure was ≤12 mmHg in both eyes without medication.

This case highlights a rare coexistence of genetically confirmed ARB, ACG, and CRVO and underscores the importance of careful anterior and posterior segment evaluation in BEST1-related disease.