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Article

Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotype.

Ophthalmic genetics - 1 Aug 2026

Hüther Alexander, Sherman Caroline L, Sumaroka Alexander, O'Neil Erin C, Roman Alejandro J, Kim Rebecca, Weber Mariejel L, Garafalo Alexandra V, Cideciyan Artur V, Aleman Tomas S

Abstract excerpt

PURPOSE: To describe the phenotype of a patient with bi-allelic pathogenic variants in NR2E3 that did not result in an overt enhanced S-cone syndrome (ESCS) phenotype. METHODS: The patient underwent a comprehensive ophthalmic exam, imaging with spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence, and vision measured with kinetic and static chromatic perimetry and full-field...

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Source

Identifiers

PMID: 41912355
DOI: 10.1080/13816810.2026.2635611

Genes

NR2E3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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