Leber Congenital Amaurosis 14; Lca14
Description
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997).For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.
Clinical Features
Top most frequent phenotypes and symptoms related to Leber Congenital Amaurosis 14; Lca14
- Nystagmus
- Cataract
- Visual impairment
- Blindness
- Rod-cone dystrophy
- Reduced visual acuity
- Photophobia
- Pallor
- Nyctalopia
- Retinal degeneration
And another 15 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.Leber Congenital Amaurosis 14; Lca14 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
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 % |
LRAT Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LRAT
Specificity
100 %
Genes
100 % |
LRAT Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LRAT
Specificity
100 %
Genes
100 % |
LRAT Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LRAT
Specificity
100 %
Genes
100 % |
LRAT Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
LRAT
Specificity
100 %
Genes
100 % |
Leber Congential Amaurosis Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
100 % |
Leber Congenital Amaurosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Retinitis Pigmentosa Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
You can get up to 55 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS LISSENCEPHALY 5; LIS5 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21