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Article

Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

Molecular vision - 17 Feb 2011

Udar Nitin, Small Kent, Chalukya Meenal, Silva-Garcia Rosamaria, Marmor Michael

Abstract excerpt

PURPOSE: Enhanced S Cone Syndrome is a rare autosomal recessive disorder characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity (Goldmann-Favre Syndrome) and by variable degrees of retinal degeneration in different families. The causative gene, nuclear receptor subfamily 2, group E, member 3 (NR2E3), controls the developmental sequence for rods and...

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Identifiers

PMID: 21364904
PMCID: PMC3044695

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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