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Karsten Hufendiek, Herbert Jaegle, Britta Fiebig, Carsten Framme, Agnes B Renner; Autosomal recessive bestrophinopathy – clinical and functional features. Invest. Ophthalmol. Vis. Sci. 2016;57(12):6594.
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© ARVO (1962-2015); The Authors (2016-present)
Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy first described by Schatz et al. in 2006. The term ARB was introduced by Burgess et al. in 2008. ARB is caused by biallelic mutations in the BEST1 gene and is characteristically associated with multiple yellowish lesions (subretinal deposits) scattered at the posterior pole reaching the periphery, cystoid macular edema and subretinal fluid. So far, several single case reports and few families with ARB were reported. We present clinical and functional features of three unrelated individuals with ARB, and in one case a 5-year follow-up.
Retrospective analysis of the clinical and electrophysiological data of three patients with ARB, including complete ophthalmological examination, fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), full-field electroretinogram (ERG), multifocal ERG, electrooculogram (EOG), and molecular genetic analysis of the BEST1 gene.
We present the data of three female patients, who were 3-, 24-, and 50-years of age, respectively, at first visit in our clinic. Funduscopy revealed in all cases central irregularities and atrophy of the retinal pigment epithelium (RPE), multiple yellowish lesions at the posterior pole, often small and round in shape and scattered along the vascular arcades and peripapillary. FAF was increased in areas corresponding to the yellowish lesions and reduced in areas of RPE defects. OCT of the macula detected in two cases subretinal fluid, irregularities of the photoreceptor outer segments, and in one case a distinct cystoid edema. Best corrected visual acuity ranged between 0.8 and 0.1 (Snellen chart). Full-field ERG was normal in the youngest, only mildly reduced in the middle, and markedly reduced in the oldest patient. EOG, tested in one case, showed absence of the light rise. In all three patients, two heterozygous BEST1 mutations were identified. During the 5-year follow-up in one patient, the yellowish lesions changed their size, number and arrangement at the posterior pole whereas visual acuity was stable.
Autosomal recessive bestrophinopathy is a rare disease, which can manifest already in early childhood. It shows a characteristic phenotype including yellowish lesions, which change their appearance during the course of the disease. Typical findings in FAF and OCT enhance finding the diagnosis and allow for a detailed follow-up.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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