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Article

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.

Investigative ophthalmology & visual science - 5 Jan 2011

Weleber Richard G, Michaelides Michel, Trzupek Karmen M, Stover Niamh B, Stone Edwin M

Abstract excerpt

PURPOSE: To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65. METHODS: Ophthalmological examination, color fundus photography, visual field testing, detailed electrophysiological assessment, and screening of RPE65 were undertaken in five subjects. Selected patients also had spectral...

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Source

Identifiers

PMID: 20811047
DOI: 10.1167/iovs.10-6106

Genes

RPE65
RPE

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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