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Article

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

Documenta ophthalmologica. Advances in ophthalmology - 1 Apr 2025

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

Abstract excerpt

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...

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Identifiers

PMID: 39976817
DOI: 10.1007/s10633-025-10007-4

Genes

RPE65
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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