Megalocornea
corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure
Megalocornea (MGCN, MGCN1) is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching or exceeding 13 mm. It is thought to have two subforms, one with autosomal inheritance and the other X-linked (Xq21.3-q22). The X-linked form is caused by a mutation in a gene CHRDL1 which encodes Chordin-like 1 protein. Men generally constitute 90% of cases.
It may be associated with Alport syndrome, Craniosynostosis, Dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, Mucolipidosis, Frank–ter Haar syndrome, Crouzon syndrome, Megalocornea-intellectual disability syndrome, etc.
Clinical features
Eyes presenting megalocornea are usually highly myopic. There may be 'with the rule' astigmatism, and the lens may be luxated due to zonular stretching. In rare cases, megalocornea might be associated with intellectual disabilities.
This brief starts where responsible research should: with the source description of “Megalocornea” as corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure. Everything that follows is an evidence route, not borrowed authority.
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This entry incorporates text from “Megalocornea” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.