Megalocornea is an extremely rare, nonprogressive condition of the eye in which the cornea has an enlarged diameter, reaching or exceeding 13 millimetres. It is thought to have two subforms, one with autosomal inheritance and one that is X-linked, mapped to Xq21.3-q22. The X-linked form is caused by a mutation in the gene CHRDL1, which encodes the protein Chordin-like 1, and men make up roughly ninety percent of cases. Megalocornea may occur alongside other conditions, among them Alport syndrome, Marfan syndrome, Down syndrome, Crouzon syndrome and Parry-Romberg syndrome. This entry follows the lead of the cited English Wikipedia article and is not medical advice.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Megalocornea (Wikipedia)
Lead
nonprogressive condition in which the cornea has an enlarged diameter
Lead [causative-agent-category]
The X-linked form is caused by a mutation in a gene CHRDL1 which encodes Chordin-like 1 protein.
View the Source2. World Health Organization ICD-10: ICD-10 Version:2019 - Q10-Q18
World Health Organization ICD-10ICD-10 2019 category Q15.0, Chapter XVIIQuote, ICD-10 2019 category Q15.0, Chapter XVII
Q15.0 Congenital glaucoma Incl.: Buphthalmos Glaucoma of newborn Hydrophthalmos Keratoglobus, congenital, with glaucoma Macrocornea with glaucoma Macrophthalmos in congenital glaucoma Megalocornea
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