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Items: 3

1.

Congenital hereditary endothelial dystrophy of cornea

Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006). [from OMIM]

MedGen UID:
387857
Concept ID:
C1857569
Congenital Abnormality; Disease or Syndrome
2.

Congenital stromal corneal dystrophy

Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children. [from GeneReviews]

MedGen UID:
400601
Concept ID:
C1864738
Disease or Syndrome
3.

Increased corneal thickness

A increased anteroposterior thickness of the cornea. [from HPO]

MedGen UID:
816781
Concept ID:
C3810451
Finding
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