Cornea plana 2, autosomal recessive (CNA2)
- Keratocan (KERA)
Cornea plana 2 (CNA2), also known as Cornea plana congenital, is a recessively inherited eye disease affecting development of the cornea, and leading to moderate impairment of visual capacity. The corneal changes are caused by structural abnormalities in keratocan, a leucine-rich protein component of a small proteoglycan, which together with other keratan sulfate proteoglycans is important for the transparency of the cornea. Keratocan is encoded by KERA gene on chromosome 12q22. The cornea is thin and unusually flat, corneal limbus is hazy, opacities are frequent in the parenchyma, and arcus senilis developes at an early age. Hyperopia, up to +10 D, is the consequence of corneal changes. Diagnosis of CNA2 is based on careful ophthalmological examination. A gene test is available for detection of the founder mutation.
UMLS Concept names
- Mutations in KERA, encoding keratocan, cause cornea plana. Pellegata NS1, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. PMID: 10802664 (Pubmed)