macular dystrophy—corneal—1

Home » Classic Medicine » Ophthalmology » macular dystrophy—corneal—1
macular dystrophy—corneal—12016-11-27T04:06:27+00:00

macular dystrophy—corneal—1

OPHTHALMOLOGY

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.

Subtypes 

• 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 

References http://www.uniprot.org/uniprot/Q9GZX3

http://www.omim.org/entry/217800

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.