Learn More
PURPOSE To undertake mutation screening in the connexin 46 (GJA3) gene in seven congenital cataract families of Indian origin. METHODS Seven Indian families with congenital cataract were analyzed by detailed family history and clinical evaluation. Each family had two to five affected members. Mutation screening was carried out in the candidate gene,(More)
BACKGROUND Phenobarbital is one of the oldest, cheapest and most easily available cerebro-protective drugs for the hypoxic brain. It has multiple actions that could be of benefit to the asphyxiated brain. However, its potential has not been fully explored. OBJECTIVE To study the effect of phenobarbital given within six hours of life to term and near-term(More)
Congenital cataract, a clinically and genetically highly heterogeneous eye disorder, is one of the significant causes of visual impairment or blindness in children. It is frequently inherited as an autosomal dominant trait. We investigated a three-generation family of Indian origin with 12 members affected with cerulean cataract. Linkage analysis was(More)
PURPOSE To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea. METHODS Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA3, and GJA8, was performed by bidirectional sequencing of(More)
PURPOSE To identify the genetic defect in an autosomal dominant congenital cataract family, having 15 members in three generations, affected with bilateral cataract that gave the appearance of "full moon" with Y-sutural opacities. METHODS A detailed family history and clinical data were recorded. A genome-wide scan by two point linkage analysis using(More)
PURPOSE The molecular characterization of an Indian family having 10 members in four generations affected with a unique fan-shaped cataract-microcornea syndrome. METHODS Detailed family history and clinical data were recorded. A genome-wide screening by two-point linkage analysis using more than 400 microsatellite markers in combination with multipoint(More)
PURPOSE To identify the genetic defect in an autosomal dominant congenital cataract family (ADCC), having 18 individuals in four generations affected with embryonal cataract. METHODS A genome wide scan using the GeneChip Human Mapping 10K Array, version 2 was performed on DNA samples from eight affected and two unaffected members of an ADCC family having(More)
PURPOSE To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract. METHODS Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin (CRYBA1), betaB2-crystallin (CRYBB2),(More)
This study was conducted to evaluate the clinical profile and outcome in late hemorrhagic disease of the newborn (HDN) with particular reference to intracranial hemorrhage. Infants (n = 42) presenting with late HDN from January 1998 to December 2001 were studied. Majority (76%) were in the age group of 1-3 months. All were term babies on exclusive(More)