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Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Abstract:

OBJECTIVE: To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D. DESIGN: A prospective, clinical family survey. PATIENTS: Ten affected members of a family with autosomal dominant CRD. METHODS: Full clinical examinations were undertaken. Selected affected family members underwent electrophysiologic evaluation, scotopic static perimetry,...

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Authors


Gregory-Evans, K More by this author
Kelsell, RE More by this author
Gregory-Evans, CY More by this author
Downes, SM More by this author
Fitzke, FW More by this author
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Journal:
Ophthalmology
Volume:
107
Issue:
1
Pages:
55-61
Publication date:
2000-01-05
DOI:
EISSN:
1549-4713
ISSN:
0161-6420
URN:
uuid:6692dd30-3c23-4fdc-bad0-5aee5674ff4d
Source identifiers:
500019
Local pid:
pubs:500019

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