Medical term:
MCD
macular corneal dystrophy
an autosomal recessive disorder characterized by glycosaminoglycan deposits in the corneal stroma.
Farlex Partner Medical Dictionary © Farlex 2012
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.Subtypes
• 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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Latest Searches:
Weil - weightbearing - weight - Weigert - Weidel - Weichselbaum - Weichbrodt - Weibel - Wehgen - Wehamine - Wegner - Wegener - weevil - Weerd - weepiness - weep - Weeks' - Weeks - weekend - WEE -
- Service manuals - MBI Corp