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1.

Isolated congenital megalocornea

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. [from SNOMEDCT_US]

MedGen UID:
1385311
Concept ID:
C4518341
Congenital Abnormality
2.

Deep anterior chamber

Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. [from HPO]

MedGen UID:
602219
Concept ID:
C0423280
Finding

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