Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.

ABSTRACT:

Purpose

To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene.

Methods

Sixty-four patients from 53 families with MCD that were previously screened for mutations in CHST6 were included in an immunophenotype analysis. Antigenic keratan sulfate (AgKS) in serum as well as corneal tissue was evaluated in 31 families. Only cornea was evaluated in 11 families, and only serum was evaluated in 11 families. AgKS was detected in formalin-fixed, paraffin-embedded corneal sections by immunohistochemistry and in serum by ELISA using a monoclonal antibody against sulfated forms of KS in patients with MCD as well as normal controls.

Results

Analysis of corneal an

SUBMITTER: Sultana A 

PROVIDER: S-EPMC2635850 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature