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Megalocornea

Congenital Malformations and Chromosomal Abnormalities

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
Body System
Eye 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 1
Transmission Route
Non-Transmissible 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
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.
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2. World Health Organization ICD-10: ICD-10 Version:2019 - Q10-Q18
World Health Organization ICD-10ICD-10 2019 category Q15.0, Chapter XVII
Quote, 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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