Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain.
Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
Eur J Ophthalmol. 2022 Sep;32(5):NP77-NP81. doi: 10.1177/11206721211010615. Epub 2021 Apr 19.
To describe the clinical and genetic characteristics (novel mutation in gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB).
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.
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 (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease.
ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.
描述一名西班牙常染色体隐性贝斯特罗病（ARB）患者的临床和遗传特征（基因中的新突变）。
详细的眼科检查包括最佳矫正视力（BCVA）、彩色和自发荧光摄影、荧光素血管造影、光学相干断层扫描和电生理学检查。对索引患者应用下一代测序（NGS）策略，然后在 Illumina NextSeq500 系统中进行测序。
一名 55 岁男性右眼 BCVA 为 20/25，左眼 BCVA 为 20/20。眼底检查显示黄斑区周围有黄色斑点样病变。荧光素血管造影和眼底自发荧光结果与图案营养不良一致。确定导致疾病的是 （c.341_342del;p.（Leu114Glnfs*57））中的纯合移码突变。
ARB 是一种导致不可逆转视力丧失的遗传疾病。在本报告中，我们发现了一种导致这种疾病的新突变。
