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Mosaic corneal dystrophy

MedGen UID:
870342
Concept ID:
C4024786
Disease or Syndrome
HPO: HP:0007836

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMosaic corneal dystrophy

Conditions with this feature

Isolated congenital megalocornea
MedGen UID:
1385311
Concept ID:
C4518341
Congenital Abnormality
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23.

Professional guidelines

PubMed

Borkar DS, Veldman P, Colby KA
Cornea 2016 Oct;35(10):1267-73. doi: 10.1097/ICO.0000000000000915. PMID: 27310885

Recent clinical studies

Clinical prediction guides

de Sanctis U, Grignolo FM
Cornea 2004 Jul;23(5):533-5. doi: 10.1097/01.ico.0000114125.63670.94. PMID: 15220744

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