Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

doi:10.3109/13816810.2013.804097

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Article

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

Ophthalmic genetics - 1 Sept 2014

Khan Arif O, Aldahmesh Mohammed A, Abu-Safieh Leen, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To describe three siblings with childhood cone-rod dystrophy and macular cystic degeneration in a family with apparently variable phenotypes of CRB1-related recessive retinal dystrophy. METHODS: Ophthalmologic examination (including electroretinography (ERG), ocular coherence tomography (OCT), and intravenous fluorescein angiography when possible) and homozygosity analysis guided candidate gene testing....

Topics

Adolescent
Adult
Child
Consanguinity
Cysts
DNA Mutational Analysis
Electroretinography
Eye Proteins
Female
Fluorescein Angiography
Genes, Recessive
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Membrane Proteins

Middle Aged

Mutation

Nerve Tissue Proteins

Pedigree

Source

Open in PubMed

Identifiers

PMID: 23767994
DOI: 10.3109/13816810.2013.804097

Genes

CRB1
ERG

Variants

Provenance

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