megalocornea
Sign in to saveAlso known as anterior megalophthalmos, congenital anterior megalophthalmia
thumb|upright|Daryl Dragon (who had megalocornea) with Toni Tenille 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.
Research
280 papers- Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A review.Clinical & experimental ophthalmology · 2021
- Megalocornea.2026
- [Congenital megalocornea].Journal francais d'ophtalmologie · 2002
- Primary megalocornea: Case report.Archivos de la Sociedad Espanola de Oftalmologia · 2020
- Megalocornea.Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde · 1962
via PubMed
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Encyclopedic overview
3 sectionsContents
- Clinical features
- References
- External links
thumb|upright|Daryl Dragon (who had megalocornea) with Toni Tenille 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.
Excerpted from Wikipedia’s “megalocornea” article, available under the CC BY-SA 4.0 licence.