Analysis on the clinical and retinal imaging characteristics of autosomal recessive bestrophinopathy

Abstract

Objective: To study the clinical and imaging features of autosomal recessive bestrophinopathy (ARB). Methods: Retrospective study. The clinical and imaging data of 14 participants were analyzed in using autofluorescence (AF), fluorescein angiography (FA) and spectral-domain optical coherence tomography (SD-OCT). Ten patients were screened for mutations in BEST1 gene. Results: Retinopathy of ARB were shown as bilaterally and circularly distributed yellow subretinal deposits in the mid-peripheral and posterior retina, which was observed more clearly by AF and FA. The abnormalities were observed as hyperreflection between the sub-retinal pigment epithelium space as well as the subretinal space by SD-OCT imaging. All of the patients showed serous retinal detachment, and 4 of them were found to have intraretinal schisis. Other ocular complications include choroidal neovascularization (CNV) and angle closure glaucoma (ACG) were also found in the patients. Genetic examinations showed that the mutations are compound heterozygous in five patients, homozygous in one patient and heterozygous in only one of the rest 4 patients. Conclusions: The combination of clinical and retinal imaging data may facilitate the diagnosis of ARB. Physicians should be cautious of the vision-threatening complications of the disease. (Chin J Ophthalmol, 2018, 54: 263-269).