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Preeti Paliwal, MSc; Jaya Gupta, DNB, FICO; Radhika Tandon, MD, DNB, FRCS(Edin), FRCOpth; Arundhati Sharma, PhD; Rasik B. Vajpayee, MS, FRCS(Edin), FRANZCO

Arch Ophthalmol. 2009;127(10):1373-1376.

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 β-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 Affiliations: Laboratory of Cyto-Molecular Genetics, Department of Anatomy (Ms Paliwal and Dr Sharma), and Cornea and Refractive Surgery Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences (Ms Gupta and Dr Tandon), All India Institute of Medical Sciences, New Delhi; and Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia (Dr Vajpayee).

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