Autosomal recessive bestrophinopathy: Clinical and multimodal imaging characteristics of sixteen cases

Purpose: To describe ocular abnormalities and imaging characteristics of autosomal recessive bestrophinopathy (ARB). Methods: Thirty two eyes of 16 patients with ARB diagnosis underwent complete ophthalmic examinations including refraction, anterior and posterior segment examination, Enhanced Depth Imaging Optical Coherence Tomography (EDI-OCT), Fluorescein angiography (FA), Electro-Retino-Gram (ERG) and Electo-Oculo-Gram (EOG). Optical Coherence Tomography Angigraphy (OCTA) and genetic testing was done in selected patients. Results: Age at onset was 4-35 year-old. Male to Female ratio was 0.5. All patients were hyperopic except one with less than 1 diopter myopia. EOG was abnormal in 12 cases with near normal ERGs. Four patients did not have enough cooperation to do EOG due to their age. Three patients had advanced angle closure glaucoma and 10 patients (62.5 %) showed thick choroid in EDI-OCT, three of them were same patients with advanced angle closure glaucoma and the other 7 were hyperopic ( five of them were more than 4 diopter hyperopic). Retinal schisis unrelated to CNV was observed in 30 eyes of 15 cases (93 %) with cysts mostly located in inner nuclear layer (INL) followed by outer nuclear layer (ONL). Mild peripheral angiographic leakage was seen in only one patient. Subfoveal CNV was seen in 2 cases that responded well to intravitreal bevacizumab. Conclusion: ARB can have a wide spectrum of ocular abnormalities and may not be easily diagnosed. Pachychoroid and retinal schisis can occur concomitantly. Pachychoroid may be the underlying cause of angle closure glaucoma.