macular corneal dystrophy

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macular corneal dystrophy

an autosomal recessive disorder characterized by glycosaminoglycan deposits in the corneal stroma.

macular corneal dystrophy

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 the serum and cornea, as 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 transparancy, cause macular corneal dystrophy.

mac·u·lar cor·ne·al dys·tro·phy

(mak'yū-lahr kōr'nē-ăl dis'trŏ-fē)
An autosomal recessive disorder characterized by glycosaminoglycan deposits in the corneal stroma
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