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Article

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.

European journal of ophthalmology - 1 Jan 2000

Titah Salah Mohamed Cherif, Meunier Isabelle, Blanchet Catherine, Lopez Severine, Rondouin Gerard, Lenaers Guy, Amati-Bonneau Patrizia, Reynier Pascal, Paquis-Flucklinger Veronique, Hamel Christian P

Abstract excerpt

PURPOSE: Wolfram syndrome (WS) or diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) (OMIM 222300) is an inherited neurodegenerative disease characterized by diabetes mellitus and optic atrophy as the 2 major criteria, followed later in life by deafness, diabetes insipidus, and various signs of neurologic impairment. The presence of a cataract has been variably mentioned in WS. METHOD:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21623591
DOI: 10.5301/EJO.2011.8370

Genes

WFS1
OPA1
OPA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.PMID 21623591Read ↗

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Wolfram syndrome: new mutations, different phenotype.Semantic proximity Read ↗

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A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.Semantic proximity Read ↗

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.Semantic proximity Read ↗

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Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.Semantic proximity Read ↗

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