Megalocornea
{{Infobox medical condition (new)
| name = Megalocornea
| synonyms =
| image =
| caption =
| pronounce =
| field = ophthalmology
| symptoms =
| complications =
| onset =
| duration =
| types =
| causes =
| risks =
| diagnosis =
| differential =
| prevention =
| treatment =
| medication =
| prognosis =
| frequency =
| deaths =
}}
File:Love Will Keep Us Together - Cash Box ad 1975.jpg (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).{{Cite book|last=Scott R.|first=Lambert|title=Taylor and Hoyt's pediatric ophthalmology and strabismus|last2=Christopher J.|first2=Lyons|publisher=Elsevier|year=2013|isbn=978-0-7020-6617-7|edition=5th|location=Edinburgh|oclc=960162637}} The X-linked form is caused by a mutation in a gene CHRDL1 which encodes Chordin-like 1 protein, also its more common and males generally constitute 90% of cases.{{Cite web |title=Entry - #309300 - MEGALOCORNEA; MGC1 - OMIM |url=https://omim.org/entry/309300 |access-date=2025-04-13 |website=omim.org |language=en-us}}
It may be associated with Alport syndrome, Craniosynostosis, Dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, Mucolipidosis, Frank–ter Haar syndrome, Crouzon syndrome, Megalocornea mental retardation syndrome, etc.{{Cite book|last=Alastair K. O.|first=Denniston|title=Oxford handbook of ophthalmology|last2=Philip I.|first2=Murray|publisher=Oxford university press|year=2018|isbn=978-0-19-252674-8|edition=4th|location=New York|oclc=1035556464}}
Clinical features
Eyes are usually highly myopic.{{Cite book|last=John F.|first=Salmon|title=Kanski's clinical ophthalmology : a systematic approach|publisher=Elsevier|year=2020|isbn=978-0-7020-7713-5|edition=9th|location=Edinburgh|oclc=1131846767}} There may be 'with the rule' astigmatism. Lens may be luxated due to zonular stretching.In rare cases, it might be associated with intellectual disabilities.
References
{{Reflist}}
External links
{{Medical resources
| DiseasesDB =
| ICD10 =
| ICD9 =
| ICDO =
| OMIM = 249300
| MedlinePlus =
| eMedicineSubj = article
| eMedicineTopic = 1196299
| MeshID =
}}
- [http://emedicine.medscape.com/article/1196299-overview Megalocornea] - eMedicine ophthalmology; May 15, 2009; Thomas A Oetting, MD, Mark A Hendrix, MD
- [http://www.medscape.com/viewarticle/542560 An Infant With Enlarged Corneas] - medscape
{{Congenital malformations and deformations of eye}}