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Article

Mutations in KERA, encoding keratocan, cause cornea plana.

Nature genetics - 1 May 2000

Pellegata N S, Dieguez-Lucena J L, Joensuu T, Lau S, Montgomery K T, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A

Abstract excerpt

Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder, dominantly inherited form (CNA1; MIM 121400) exist. CNA2 is a rare disorder with a worldwide distribution, but a high...

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Source

Identifiers

PMID: 10802664
DOI: 10.1038/75664

Genes

KERA
OGN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in KERA, encoding keratocan, cause cornea plana.PMID 10802664Read ↗

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