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Article

A novel keratocan mutation causing autosomal recessive cornea plana.

Investigative ophthalmology & visual science - 1 Dec 2001

Lehmann O J, El-ashry M F, Ebenezer N D, Ocaka L, Francis P J, Wilkie S E, Patel R J, Ficker L, Jordan T, Khaw P T, Bhattacharya S S

Abstract excerpt

PURPOSE: Mutations in keratocan (KERA), a small leucine-rich proteoglycan, have recently been shown to be responsible for cases of autosomal recessive cornea plana (CNA2). A consanguineous pedigree in which cornea plana cosegregated with microphthalmia was investigated by linkage analysis and direct sequencing. METHODS: Linkage was sought to polymorphic microsatellite markers distributed around the CNA2 and...

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Source

Identifiers

PMID: 11726611

Genes

KERA

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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