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Article

Reclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.

Ophthalmic genetics - 1 Jun 2026

Chen Vincent, Lee Winston, Kang Eugene Yu-Chuan, Liu Laura, Hsiao Meng-Chang, Wang Nan-Kai

Abstract excerpt

NR2E3 is a nuclear orphan receptor essential for photoreceptor development. Variants in the NR2E3 gene are associated with autosomal recessive retinitis pigmentosa 37 (RP37) and enhanced S-cone syndrome (ESCS). We report a novel NR2E3 variant in a family with RP37, aiming to clarify pathogenicity through clinical and genetic evaluation. The proband, a 26-year-old woman, experienced childhood-onset nyctalopia and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41534910
DOI: 10.1080/13816810.2025.2610385
PMCID: PMC12993737

Genes

NR2E3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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