MOLECULAR GENETIC STUDY OF MACULAR CORNEAL DYSTROPHY IN EGYPTIAN PATIENTS

Document Type : Preliminary preprint short reports of original research

Authors

1 Ophthalmology Department, Faculty of Medicine- Alexandria University

2 Department of Ophthalmology, Faculty of Medicine, Alexandria University

3 Department of Ophthalmolog, Medical Research Institute, Alexandria University

4 MOLECULAR GENETIC STUDY OF MACULAR CORNEAL DYSTROPHY IN EGYPTIAN PATIENTS

Abstract

Macular corneal dystrophy is an autosomal recessive disorder with irregularly shaped superficial opacities of stroma occurs in the first decade of life with early symptom of diminishing vision, photophobia and corneal abrasions rarely and progresses to severe bilateral visual impairment in adulthood characterized by an accumulation of glycosaminoglycans in keratocytes and the endothelium due to metabolic abnormality in keratan sulfate. MCD is classified as Category 1 in the IC3D system genetics of MCD explain that the defect is due to the absence of sulfate residues in the carbohydrate side chains from keratan sulfate proteoglycan and the oligosaccharide side chains are smaller than normal cornea this due to mutations within the CHST6 gene on chromosome 16 . Diagnosing of MCD can be by anterior segment optical coherence tomography (OCT), In vivo confocal microscopy,Scheimpflug imaging, and Ultrasound bio microscopy (UBM). Management is by Phototherapeutic keratectomy (PTK), Femtosecond assisted lamellar keratectomy and Keratoplasty.

Aim of work:
The aim of the work was to identify the CHST6 gene mutations in a group of Egyptian macular corneal dystrophy patients. This would confirm the clinical diagnosis, allowing proper management and genetic counseling.

Keywords

ALEXMED ePosters
Volume 6, Issue 4
September 2024
Pages 73-74

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