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.
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.

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

单词	macular corneal dystrophy
释义	macular corneal dystrophy 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. 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. 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 AcronymsSeeMCD
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