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Article

Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.

Investigative ophthalmology & visual science - 2 Jul 2018

Garafalo Alexandra V, Calzetti Giacomo, Cideciyan Artur V, Roman Alejandro J, Saxena Supna, Sumaroka Alexander, Choi Windy, Wright Alan F, Jacobson Samuel G

Abstract excerpt

Purpose: To determine the progression of cone vision loss in patients with recessive disease from NR2E3 gene mutations. Methods: Patients with NR2E3 mutations (n = 37) were studied as a retrospective observational case series clinically and with chromatic static perimetry. Patients were investigated cross-sectionally, and a subset was followed longitudinally. Results: Patients showed a range of visual acuities;...

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Identifiers

PMID: 29971438
DOI: 10.1167/iovs.18-24518

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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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