Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy

To report the ocular manifestations, multimodal imaging characteristics and genetic testing results of six patients with autosomal recessive bestrophinopathy (ARB). This was an observational case series including 12 eyes of 6 patients who were diagnosed with ARB. All patients underwent a complete ophthalmic examination including refraction, slit-lamp biomicroscopy, dilated fundus examination, fundus autofluorescence, optical coherence tomography and electrooculography. BEST1 gene sequencing was also performed for all patients. The mean age was 22.8years and the male–female ratio was 0.50. All ARB patients had a hyperopic refractive error. A spectrum of fundus abnormalities, including multifocal yellowish subretinal deposits in the posterior pole, subfoveal accumulation of vitelliform material and cystoid macular edema, was observed. Fundus autofluorescence imaging demonstrated marked hyperautofluorescence corresponding to the yellowish subretinal deposits. Optical coherence tomography revealed serous retinal detachment, intraretinal cysts, brush border appearance caused by elongation of the outer segments of photoreceptors, and hyperreflective dome-shaped deposits at the level of the retinal pigment epithelium. Fundus fluorescein angiography showed hyperfluorescence with staining of the yellowish subretinal deposits. Electrooculography showed reduced Arden ratio in all patients. In addition, biallelic pathogenic variants in the BEST1 gene were detected in all patients. ARB is a rare autosomal recessive inherited retinal disorder with biallelic pathogenic variants in the BEST1 gene and may present with a wide range of ocular abnormalities that may not be easily diagnosed. Multimodal retinal imaging in conjunction with EOG is helpful to establish the correct diagnosis. Rapporter les manifestations oculaires, les caractéristiques d’imagerie multimodale ainsi que les résultats des tests génétiques de six patients atteints de bestrophinopathie autosomique récessive (ARA). Une série de cas d’observation comprenant 12 yeux de 6 patients diagnostiqués comme ARA. Tous les patients ont subi un examen ophtalmique complet comprenant réfraction, biomicroscopie à la lampe à fente, examen du fond d’œil dilaté, autofluorescence du fond d’œil, tomographie par cohérence optique et électro-oculographie. Le séquençage du gène BEST1 a également été effectué pour tous les patients. L’âge moyen était de 23,8 ans et le ratio hommes–femmes était de 0,50. Tous les patients ARA avai