cornea plana 2

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cornea plana 22016-11-28T21:29:20+00:00

cornea plana 2

OPHTHALMOLOGY

Definition An über rare autosomal recessive condition (OMIM:217300), characterised by flattening of the forward convex curvature of the cornea, leading to decreased refraction, reduced visual activity, extreme hyperopia (usually plus 10+ d), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often at an early age). Whilst cornea plana 2 has a worldwide distribution, it is more common in the Finns. 

Molecular pathology Defects of KERA, which encodes a keratan sulfate proteoglycan important in developing and maintaining corneal transparency and the corneal stromal matrix, cause cornea plana 2. 

Reference http://www.uniprot.org/uniprot/O60938

http://www.omim.org/entry/217300

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