macular dystrophy—corneal—1

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macular dystrophy—corneal—12016-11-27T04:06:27+00:00

macular dystrophy—corneal—1


An autosomal recessive condition (OMIM:217800) characterised by progressive minute, grey, punctate corneal opacities of early onset, usually between age 5 and 9. Corneal sensitivity is usually reduced, accompanied by pain, photophobia, foreign body sensation, and recurrent erosions.


• MCD type I Virtual absence of keratan sulfate in serum and cornea, determined by KS-specific antibodies–due to a homozygous missense mutation

• MCD type II Normal KS-antibody response in cornea and serum–due to a large deletion and replacement in the upstream region of CHST6.

Molecular pathology Defects in CHST6, which encodes a sulfotransferase that maintains corneal transparency, cause macular corneal dystrophy

Synonyms Corneal dystrophy—macular type, Groenouw type corneal dystrophy 


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