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Article

Enhanced S-cone function with preserved rod function: a new clinical phenotype.

Molecular vision - 1 Jan 2011

Kinori Michael, Pras Eran, Kolker Andrew, Ferman-Attar Gili, Moroz Iris, Moisseiev Joseph, Bandah-Rozenfeld Dikla, Mizrahi-Meissonnier Liliana, Sharon Dror, Rotenstreich Ygal

Abstract excerpt

PURPOSE: To describe the clinical findings and genetic analysis in two brothers having a novel retinal disease characterized by an enhanced S-cone phenotype with normal rod function. METHODS: Both patients underwent complete ophthalmologic examinations, including fundus photography, electroretinography (ERG), fluorescein angiography and optical coherence tomography (OCT). Mutation analysis of the following...

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Identifiers

PMID: 21897746
PMCID: PMC3164686

Genes

ERG
NRL
THRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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