Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.

IF 2.9 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2025-10-06 DOI:10.1007/s10633-025-10056-9

Yusuke Tatemoto, Takaaki Hayashi, Kei Mizobuchi, Seika Den, Tadashi Nakano

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Abstract

Purpose: To report a 42 year-old male patient with Best vitelliform macular dystrophy (BVMD) complicated by diabetic retinopathy, who harbored a missense variant in the BEST1 gene.

Methods: Comprehensive ophthalmological examinations, including full-field electroretinography (ERG) and electrooculography (EOG), were performed. Whole exome sequencing (WES) was conducted to identify potential disease-causing variant(s), and Sanger sequencing was used for confirmation.

Results: Fundus photography and fluorescein angiography revealed macular degeneration and non-proliferative diabetic retinopathy with macular leakage. Although the light peak/dark trough (Arden) ratio on EOG was relatively preserved, a reduced light rise and attenuated dark trough amplitudes were observed. ERG demonstrated normal rod and cone system function. Based on optical coherence tomography findings, the BVMD stage was classified as a stage between the Vitelliruptive and Atrophic stages in the right eye, and as the Pseudohypopyon stage in the left eye. WES identified a previously unreported BEST1 variant, c.737G > A: p.(Ser246Asn) heterozygously, confirmed by Sanger sequencing.

Conclusions: This case emphasizes the importance of EOG assessment and genetic analysis in establishing an accurate diagnosis of BVMD, particularly in patients with coexisting conditions such as diabetic retinopathy.

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由best1p .（Ser246Asn）变异引起的黄斑营养不良与糖尿病视网膜病变共存。

目的：报告一例伴有Best黄斑营养不良（BVMD）并糖尿病视网膜病变的42岁男性患者，该患者携带BEST1基因错义变异。方法：进行全视野视网膜电图（ERG）、眼电图（EOG）等眼科综合检查。采用全外显子组测序（WES）鉴定潜在致病变异，并采用Sanger测序进行确认。结果：眼底摄影和荧光素血管造影显示黄斑变性和非增殖性糖尿病视网膜病变伴黄斑渗漏。虽然EOG上的光峰/暗谷（Arden）比相对保持不变，但光升和暗谷幅值有所降低。ERG显示杆状和锥状系统功能正常。根据光学相干断层扫描结果，将右眼BVMD分期分为介于卵黄撕裂期和萎缩期之间的阶段，左眼分为假性低视期。经Sanger测序证实，WES发现了一个以前未报道的BEST1变异，c.737G > a: p.（Ser246Asn）杂合。结论：本病例强调了EOG评估和基因分析在建立BVMD准确诊断中的重要性，特别是在合并糖尿病视网膜病变的患者中。

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

Documenta Ophthalmologica 医学-眼科学

CiteScore

3.50

自引率

21.40%

发文量

审稿时长

>12 weeks

期刊介绍： Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).