Sage Journals: Discover world-class research

Abstract

Purpose:

To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB).

Methods:

The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system.

Results:

A 55-year-old male presented with a BCVA of 20/25 in the right eye and 20/20 in the left eye. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence results were consistent with pattern dystrophy. A homozygous frameshift mutation in BEST1 (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease.

Conclusion:

ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.

Keywords

autosomal recessive bestrophinopathy bestrophinopathies inherited retinal disease

Get full access to this article

View all access options for this article.

References

Marmorstein

Kinnick

Stanton

, et al. Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium. Mol Vis 2015; 21: 347–359.

Boon

Klevering

Leroy

, et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res 2009; 28(3): 187–205.

Burgess

Millar

Leroy

, et al. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 2008; 82(1): 19–31.

Bravo-Gil

Gonzalez-Del Pozo

Martin-Sanchez

, et al. Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Sci Rep 2017; 7: 41937.

Jaffal

Joumaa

Assi

, et al. Novel missense mutations in BEST1 are associated with bestrophinopathies in Lebanese patients. Genes 2019; 10: 151.

Gao

Tian

, et al. Clinical and mutation analysis of patients with best vitelliform macular dystrophy or autosomal recessive bestrophinopathy in Chinese population. Biomed Res Int 2018; 2018: 4582816.

Dalvin

Abou Chehade

Chiang

, et al. Retinitis pigmentosa associated with a mutation in BEST1. Am J Ophthalmol Case Rep 2016; 2: 11–17.

Lecker

Goldberg

Mitch

WE.

Protein degradation by the ubiquitin-proteasome pathway in normal and disease states. J Am Soc Nephrol 2006; 17(7): 1807–1819.

Guziewicz

Sinha

Gómez

, et al. Bestrophinopathy: an RPE-photoreceptor interface disease. Prog Retin Eye Res 2017; 58: 70–88.

10.

Kurihara

Westenskow

Gantner

, et al. Hypoxia-induced metabolic stress in retinal pigment epithelial cells is sufficient to induce photoreceptor degeneration. eLife 2016; 5: e14319.

Supplementary Material

Please find the following supplemental material available below.

For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.

For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.

0.00 MB

0.30 MB