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Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

Mohamed, M.D., Topping, N.C, Jafri, H., Raashed, Y., McKibbin, M.A. and Inglehearn, C.F. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. British Journal of Ophthalmology, 87 (4). pp. 473-475. ISSN 0007-1161

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BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene.

METHODS: 13 family members including five affected individuals consented to DNA analysis and ocular examination including fundal photography.

RESULTS: Ocular abnormalities are described. The most striking feature was the progression of macula abnormalities in three brothers resulting in a colobomatous appearance in the eldest compared to only mild atrophy in the youngest. The phenotypic pattern of this mutation in this Pakistani family contrasts with the “Old Order River Brethren” who were of Swiss descent, in whom the mutation was first described.

CONCLUSION: The evolution of a new phenotypic picture is presented to a mutation in LCA5.

Item Type: Article
Copyright, Publisher and Additional Information: © 2003 BMJ Publishing Group
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Genetics (Leeds)
Depositing User: Milburn Gemma
Date Deposited: 13 Mar 2006
Last Modified: 08 Jun 2014 08:44
Published Version: http://bjo.bmjjournals.com/cgi/content/full/87/4/4...
Status: Published
Refereed: Yes
Identification Number: 10.1136/bjo.87.4.473
URI: http://eprints.whiterose.ac.uk/id/eprint/234

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