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Megalocornea

AI overview

Megalocornea is an extremely rare nonprogressive condition in which the cornea has an enlarged diameter, reaching or exceeding 13 mm.

Key points
  • It has two subforms, one with autosomal inheritance and the other X-linked (Xq21.3-q22).
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    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 the CHRDL1 gene encoding Chordin-like 1 protein.
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    The X-linked form is caused by a mutation in a gene CHRDL1 which encodes Chordin-like 1 protein.
  • Men constitute approximately 90% of cases.
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    Men generally constitute 90% of cases.
  • It may be associated with multiple syndromes including Alport syndrome, Marfan syndrome, Down syndrome, and others.
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    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.
Symptoms
  • Eyes with megalocornea are usually highly myopic.
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    Eyes presenting megalocornea are usually highly myopic .
  • There may be 'with the rule' astigmatism.
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    There may be 'with the rule' astigmatism ,
  • The lens may be luxated due to zonular stretching.
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    the lens may be luxated due to zonular stretching.
  • In rare cases, it may be associated with intellectual disabilities.
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    In rare cases, megalocornea might be associated with intellectual disabilities .
Prognosis

The condition is nonprogressive.

AI-synthesized from the Wikipedia article “Megalocornea”. Not medical advice. Verify source →
Megalocornea
SpecialtyOphthalmology
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).[1] 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.[1][2]

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.[1][3]

Eyes presenting megalocornea are usually highly myopic.[4] There may be 'with the rule' astigmatism,[1] and the lens may be luxated due to zonular stretching.[4] In rare cases, megalocornea might be associated with intellectual disabilities.[citation needed]

  1. 1 2 3 4 Scott R., Lambert; Christopher J., Lyons (2013). Taylor and Hoyt's pediatric ophthalmology and strabismus (5th ed.). Edinburgh: Elsevier. ISBN 978-0-7020-6617-7. OCLC 960162637.
  2. ↑ "Entry - #309300 - MEGALOCORNEA; MGC1 - OMIM". omim.org. Retrieved 2025-04-13.
  3. ↑ Alastair K. O., Denniston; Philip I., Murray (2018). Oxford handbook of ophthalmology (4th ed.). New York: Oxford university press. ISBN 978-0-19-252674-8. OCLC 1035556464.
  4. 1 2 John F., Salmon (2020). Kanski's clinical ophthalmology : a systematic approach (9th ed.). Edinburgh: Elsevier. ISBN 978-0-7020-7713-5. OCLC 1131846767.