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Article

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

Investigative ophthalmology & visual science - 1 Feb 2002

El-Ashry Mohamed F, Abd El-Aziz Mai M, Wilkins Simon, Cheetham Michael E, Wilkie Susan E, Hardcastle Alison J, Halford Stephanie, Bayoumi Ahmed Y, Ficker Linda A, Tuft Stephen, Bhattacharya Shomi S, Ebenezer Neil D

Abstract excerpt

PURPOSE: Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnormal deposits in the corneal stroma, keratocytes, Descemet's membrane, and endothelium, accompanied by progressive clouding. It has been classified into three immunophenotypes--MCD types I, IA, and II--according to the serum level of sulfated keratan sulfate (KS) and immunoreactivity of the corneal tissue. Recently,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11818380

Genes

CHST6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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