Unilateral maculopathy associated with autosomal dominant bestrophinopathy.

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-06-24 DOI:10.1080/13816810.2025.2521657

Miguel Cruz-Pimentel, Thomas Wright, Kenneth T Eng, Brian G Ballios

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引用次数: 0

Abstract

Purpose: To describe the presentation of Best Vitelliform Macular Dystrophy (BVMD) as a unilateral maculopathy with bilateral retinal pigment epithelium (RPE) reduced function secondary to molecular changes or variants in BEST1 gene.

Methods: Retrospective case series.

Results: Both patients exhibited unilateral anatomical changes during fundus examination caused by pathogenic variants in BEST1. These changes were also evident in fundus autofluorescence (FAF) and optical coherence tomography (OCT) images. However, both patients displayed evidence of global RPE dysfunction, which was confirmed by a reduced light peak-to-dark trough amplitude ratio (LP: DT ratio) on the electrooculogram (EOG).

Conclusion: Autosomal dominant variants in the BEST1 gene can manifest as unilateral disease. In such cases, it is important to conduct genetic testing promptly to confirm the presence of bestrophinopathy. When counseling the patient, it is essential to discuss the potential for future anatomical involvement in the unaffected eye.

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单侧黄斑病变与常染色体显性视网膜病变相关。

目的：描述bestvitelliform Macular Dystrophy （BVMD）是一种单侧黄斑病变，双侧视网膜色素上皮（RPE）功能降低，继发于BEST1基因的分子改变或变异。方法：回顾性病例系列。结果：两例患者在眼底检查时均表现出由BEST1致病变异引起的单侧解剖改变。这些变化在眼底自身荧光（FAF）和光学相干断层扫描（OCT）图像中也很明显。然而，两名患者均表现出全局性RPE功能障碍，这可以通过眼电图（EOG）上的光峰与暗谷振幅比（LP: DT比）降低得到证实。结论：BEST1基因常染色体显性变异可表现为单侧病变。在这种情况下，重要的是要及时进行基因检测，以确认是否存在双性恋。在咨询患者时，必须讨论未来未受影响的眼睛的解剖受累的可能性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.