Cornea plana 2

Classification	D ICD-10: Q13.4; OMIM: 217300;
External resources	Orphanet: 53691;

Cornea plana 2
Cornea plana 2
Specialty	Medical genetics

Cornea plana 2 (CNA2) is an extremely rare congenital hereditary deformity of the eye surface, leading to severe decrease in corneal curvature. There is evidence that cornea plana 2 is caused by mutations in KERA gene encoding keratocan.^[1]

References[]

^ Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A (May 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat. Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664.

External links[]

Congenital Clouding of the Cornea - eMedicine; by Noah S Scheinfeld, MD, JD, FAAD and Benjamin D Freilich, MD, FACS

[pmid10802664-1] Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A (May 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat. Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664.

[1]

Classification	D ICD-10: Q13.4 OMIM: 217300
External resources	Orphanet: 53691

Cornea plana 2

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