Relatively preserved retinal function in RPE65-associated retinopathy: a case report.

IF 2.6 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2025-02-20 DOI:10.1007/s10633-025-10007-4

Kei Mizobuchi, Takaaki Hayashi, Shuhei Kameya, Yuri Ohta, Kohei Kuribayashi, Kei Shinoda

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引用次数: 0

Abstract

Purpose: RPE65-associated retinopathy is a rare form of inherited retinal dystrophy. This case report aimed to describe a patient with biallelic RPE65 variants who demonstrated a milder phenotype compared to previous cases.

Case presentation: A 9-year-old male patient was referred to The Jikei University Hospital for clinical and genetic assessments. The patient underwent ophthalmic examinations, including full-field electroretinography (ERG) in the left eye (LE) and in right eye (RE) after 30 min and 24 h of dark adaptation, respectively, and genetic testing using whole exome sequencing analysis. The genetic analysis revealed a known variant [(c.1543C > T, p.Arg515Trp)] and a novel variant [c.462G > T, (p.Lys154Asn)] in the compound heterozygous state in the RPE65 gene. Fundus photograph showed a normal appearance at the posterior pole and multiple white dots in the midperipheral retina. Fundus autofluorescence imaging showed diffusely decreased autofluorescence. Optical coherence tomography showed a normal appearance, including the outer retinal layers. Dark-adapted (DA) ERGs. (DA 0.01, DA 3.0, and DA 10.0) were reduced in amplitude in both eyes (BE), whereas a slight recovery of amplitude was observed in the RE. The b/a-wave ratios of DA 3.0 and 10.0 were 1.31 and 1.30 in the RE, and 1.16 and 1.25 in the LE. Light-adapted ERGs (LA 3.0 and LA 30-Hz flicker) were also reduced in amplitude in BE.

Conclusions: Our findings suggest that RPE65-associated retinopathy should be considered in the differential diagnosis, even in patients with preserved retinal structure and function.

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rpe65相关视网膜病变相对保存视网膜功能1例报告。

目的：rpe65相关视网膜病变是一种罕见的遗传性视网膜营养不良。本病例报告旨在描述一个双等位基因RPE65变异的患者，与以前的病例相比，他表现出更温和的表型。病例介绍：一名9岁男性患者被转介到智庆大学医院进行临床和遗传评估。患者分别在黑暗适应30 min和24 h后接受眼科检查，包括左眼（LE）和右眼（RE）的全视野视网膜电图（ERG）检查，并采用全外显子组测序分析进行基因检测。遗传分析揭示了一种已知的变异[c]。[3] [c] [b] [b] [c]。462G > T, (p.Lys154Asn)]在RPE65基因中处于复合杂合状态。眼底照片显示后极外观正常，视网膜中周部有多个白点。眼底自身荧光成像显示弥漫性自身荧光减弱。光学相干断层扫描显示外观正常，包括视网膜外层。暗适应（DA） ERGs。（DA 0.01、DA 3.0和DA 10.0）双眼振幅降低（BE），而RE区振幅略有恢复。DA 3.0和10.0的b/a波比在RE区分别为1.31和1.30，LE区分别为1.16和1.25。光适应erg （LA 3.0和LA 30 hz闪烁）在BE中的振幅也有所降低。结论：我们的研究结果表明，即使在视网膜结构和功能完好的患者中，rpe65相关的视网膜病变也应纳入鉴别诊断。

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).