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Article

Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2022

Mizobuchi Kei, Hayashi Takaaki, Matsuura Tomokazu, Nakano Tadashi

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. NRL-associated autosomal dominant (AD)-RP is a rare form of AD-RP in the Japanese population. This study aimed to report a clinical characterization of NRL-associated retinopathy in a three-generation Japanese family. CASE PRESENTATION: A total of 4 patients from a Japanese family were referred to The Jikei University...

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Child
Child, Preschool
Electroretinography
Japan
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Degeneration

Retinitis Pigmentosa

Tomography, Optical Coherence

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PMID: 35653045
DOI: 10.1007/s10633-022-09874-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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