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Article

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Investigative ophthalmology & visual science - 8 Jun 2012

Preising Markus N, Hausotter-Will Nora, Solbach Manuel C, Friedburg Christoph, Rüschendorf Franz, Lorenz Birgit

Abstract excerpt

PURPOSE: To identify the underlying mutation and describe the phenotype in a consanguineous Kurdish family with Leber's congenital amaurosis (LCA)/early onset severe retinal dystrophy (EOSRD). METHODS: Members of the index family were followed up to 22 years by ophthalmological examinations, including best corrected visual acuity (BCVA), Goldmann visual field (GVF), two-color-threshold perimetry (2CTP) and...

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Identifiers

PMID: 22531706
DOI: 10.1167/iovs.12-9519
PMCID: PMC3390007

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ERG

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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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