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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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).