A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.

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Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691
hasDbXref
  • OMIM:217300
  • OMIM:121400
  • ICD-10:Q13.4
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409945
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409929
  • http://www.orpha.net/ORDO/Orphanet_409930
notation
  • ORPHA:53691
part of
  • http://www.orpha.net/ORDO/Orphanet_519282
  • http://www.orpha.net/ORDO/Orphanet_183557
  • http://www.orpha.net/ORDO/Orphanet_98621
  • http://www.orpha.net/ORDO/Orphanet_522556
  • http://www.orpha.net/ORDO/Orphanet_98553