title: Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi.
authors.forename: Preeti
authors.initials: P
authors.lastname: Paliwal
authors.forename: Jaya
authors.initials: J
authors.lastname: Gupta
authors.forename: Radhika
authors.initials: R
authors.lastname: Tandon
authors.forename: Arundhati
authors.initials: A
authors.lastname: Sharma
authors.forename: Rasik B
authors.initials: RB
authors.lastname: Vajpayee
mesh_terms: D000328:Adult; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D018613:Microscopy, Confocal; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D055815:Young Adult; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein