Boomiraj Hemadevi

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Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function(More)
OBJECTIVE To identify Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) gene mutations associated with autosomal recessive congenital hereditary endothelial dystrophy (CHED2). METHODS DNA extraction from blood, polymerase chain reaction amplification, and direct sequencing of all the exons of the SLC4A11 gene were performed for 26(More)
BACKGROUND Mutations in COL8A2 gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD). Heterozygous mutations in the SLC4A11 gene are also known to cause late-onset FECD. Therefore we screened for COL8A2, SLC4A11 gene variants in Indian FECD patients. (More)
PURPOSE The purposes of this study were to describe the clinical characteristics of corneal patients with mutations in the SLC4A11 gene and to determine if these characteristics could be correlated with specific genetic mutations. METHODS A retrospective case series review was conducted. Baseline demographic data, including gender, age at diagnosis of(More)
The corneal endothelium serves primarily in maintaining stromal deturgescence which is essential for transparency of cornea. Any disturbance in its function leads to stromal edema which in turn reduces vision. The genetically heterogeneous nature of four different kinds of corneal endothelial dystrophies represents the involvement of diverse set of genes.(More)
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