Keratoconus 1 (KTCN1)

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OMIM® 57 148300 OMIM Phenotypic Series 57 PS148300 MedGen 41 C1835677

SNOMED-CT via HPO 68 263681008 65636009 82649003 UMLS 71 C1835677

OMIM® : ⁵⁷ Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by Dash et al., 2006). Ihalainen (1986) reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber (204000). (148300) (Updated 05-Mar-2021)

MalaCards based summary : Keratoconus 1, also known as ktcn1, is related to keratoconus and keratoconus 5. An important gene associated with Keratoconus 1 is VSX1 (Visual System Homeobox 1). Affiliated tissues include eye, and related phenotypes are keratoconus and astigmatism

UniProtKB/Swiss-Prot : ⁷³ Keratoconus 1: Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.

Clinical features from OMIM®:

148300 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Keratoconus 1

Search GEO for disease gene expression data for Keratoconus 1.