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macular corneal dystrophy
Classification:
- type 1:
- virtual absence of sulfated keratan sulfate in the serum & cornea, as determined by keratan sulfate- specific antibodies
- homozygous missense mutation in the CHST6 gene
- type 2
- sulfated keratin sulfate-antibodies in cornea & serum
- large deletion & replacement in the upstream region of the CHST6 gene
Pathology:
1) acid mucopolysaccharides are demonstrable in corneal fibroblasts
2) synthesis of corneal keratan sulfate and other glycosaminoglycans may be abnormal
Genetics:
- autosomal recessive
- associated with mutations in CHST6 Clinical maniifestations:
1) onset occurs in the first decade, usually age 5-9
2) disorder is progressive
3) corneal opacities
4) minute, gray, punctate opacities develop
5) corneal sensitivity is usually reduced
6) painful attacks with photophobia, foreign body sensations, & recurrent erosions occur in most patients
Related
carbohydrate sulfotransferase 6; corneal N-acetylglucosamine-6-O-sulfotransferase; C-GlcNAc6ST; hCGn6ST; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta; GST4-beta; N-acetylglucosamine 6-O-sulfotransferase 5; GlcNAc6ST-5; Gn6st-5 (CHST6)
cornea (C, K)
General
genetic disease of the eye
Database Correlations
OMIM 217800
References
OMIM :accession 217800