Immunophenotypes of Macular Corneal Dystrophy in India
Author Information
Author(s): Sultana Afia, Klintworth Gordon K., Thonar Eugene J-M.A., Vemuganti Geeta K., Kannabiran Chitra
Primary Institution: Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, India
Hypothesis
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.
Conclusion
MCD type I was the predominant immunophenotype in the Indian population studied, followed by MCD type IA and MCD type II, with no simple correlations between immunophenotypes and specific mutations in CHST6.
Supporting Evidence
- MCD type I was found in 27 families, MCD type IA in 5 families, and MCD type II in 3 families.
- Seven families showed atypical immunophenotypes with varying serum AgKS levels.
- No clear correlations were found between immunophenotypes and specific mutations in CHST6.
Takeaway
This study looked at different types of a corneal disease in Indian patients and found that most had a specific type, but the reasons for the differences were complicated.
Methodology
The study included 64 patients from 53 families with MCD, evaluating antigenic keratan sulfate in serum and corneal tissue through immunohistochemistry and ELISA.
Limitations
The study may not fully explain the complexity of immunophenotypes and their relation to CHST6 mutations.
Participant Demographics
Indian patients with macular corneal dystrophy.
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