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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy.

OBJECTIVES: To determine genotypes in 2 Indian families with severe granular corneal dystrophy, to document clinical and histopathologic features, and to attempt a genotype-phenotype correlation. METHODS: Mutation analysis of exon 12 of the TGFBI gene was carried out in 9 individuals from 2 families. RESULTS: A C-->T mutation at residue 1710 of TGFBI complementary DNA, corresponding to an Arg555Trp mutation in keratoepithelin, was found in affected members of both families. In 5 patients, this mutation was homozygous, and it was heterozygous in the other 4. Clinical examination revealed a severe form of granular corneal dystrophy with early onset and superficial lesions in the homozygous individuals and a milder phenotype in the heterozygous individuals. Histopathologic evaluation of corneal specimens from 2 homozygous patients confirmed the presence of superficial granular deposits. CONCLUSIONS: To our knowledge, this is the first molecular and clinical characterization of severe granular corneal dystrophy in India. Genotype-phenotype correlation and comparison with earlier reports on this entity highlight the uniform expressivity of the Arg555Trp allele in homozygous individuals. CLINICAL RELEVANCE: Homozygous granular corneal dystrophy has a severe phenotype and can be recognized based on clinical and histopathologic features, especially in association with consanguinity or inbreeding.[1]


  1. Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy. Kannabiran, C., Sridhar, M.S., Chakravarthi, S.K., Vemuganti, G.K., Lakshmipathi, M. Arch. Ophthalmol. (2005) [Pubmed]
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