Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India.

Full Abstract

OBJECTIVE: To report Avellino corneal dystrophy and underlying R124H mutation in 2 families of Indian origin. METHODS: Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected individuals. Amplification of transforming growth factor beta-induced gene (TGFBI) using polymerase chain reaction followed by direct sequencing was carried out to determine the mutations underlying the disorder. A detailed clinical evaluation was undertaken to establish a genotype-phenotype correlation. RESULTS: R124H mutation resulting from a missense heterozygous substitution of G to A at nucleotide 418 of TGFBI was detected in all affected members of the 2 families. The affected individuals were clinically diagnosed as having granular corneal dystrophy. Histopathological examination was not done because no surgical intervention was undertaken. CONCLUSIONS: To our knowledge, this is the first report of Avellino corneal dystrophy from India clinically diagnosed as granular corneal dystrophy, emphasizing that TGFBI screening is essential for the accurate diagnosis and classification of corneal dystrophies. CLINICAL RELEVANCE: Molecular genetics is a useful tool for accurate diagnosis and classification of corneal dystrophies. All autosomal dominant stromal dystrophies should be screened for underlying mutations in TGFBI because the clinical and phenotypic appearance is variable.

Author information

Author/s: Paliwal, Preeti (P); Gupta, Jaya (J); Tandon, Radhika (R); Sharma, Arundhati (A); Vajpayee, Rasik B (RB);

Affiliation: Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi.

Journal and publication information

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal: Archives of ophthalmology (Arch Ophthalmol), published in United States. (Language: eng)

Reference: 2009-Oct; vol 127 (issue 10) : pp 1373-6

Dates: Created 2009/10/13; Completed 2009/11/02;

PMID: 19822856, status: MEDLINE (last retrieval date: 11/2/2009, IMS Date: )

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adult
Corneal Dystrophies, Hereditary - diagnosis; genetics
Extracellular Matrix Proteins - genetics
Female
Genetic Markers
Genetic Predisposition to Disease - genetics
Genetic Screening
Genotype
Humans
India

India
Male
Microscopy, Confocal
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Polymerase Chain Reaction
Transforming Growth Factor beta - genetics
Young Adult

Associated Chemicals: Extracellular Matrix Proteins (0) ; Genetic Markers (0) ; Transforming Growth Factor beta (0) ; betaIG-H3 protein (148710-76-3)

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