Keratoconus 1; Ktcn1
Description
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 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Keratoconus 1; Ktcn1
- Visual impairment
- Myopia
- Edema
- Scarring
- Astigmatism
- Corneal dystrophy
- Eosinophilia
- Keratoconus
- Allergy
- Corneal scarring
And another 1 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Keratoconus 1; Ktcn1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
VSX1
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
VSX1
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
VSX1
Specificity
100 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
VSX1, ZNF469, MIR184, PRDM5
Specificity
25 %
Genes
100 % |
You can get up to 16 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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