Oculocutaneous albinism associated with corneal mesodermal dysgenesis.
A 48-year-old woman had tyrosine-negative oculocutaneous albinism and corneal mesodermal dysgenesis of the Axenfeld type. Results of chromosome analysis were normal, and no other family members showed the association of these two conditions. The rarity with which the association has been reported suggests that this combination of findings is probably coincidental.
D000417:Albinism / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D002829:Choroid; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007499:Iris Diseases / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D014603:Uveal Diseases / Q000175:diagnosis / Q000209:etiology*