Leber Congenital Amaurosis 5; Lca5

Clinical Features

Phenotypes and symptoms related to Leber Congenital Amaurosis 5; Lca5

  • Nystagmus
  • Visual impairment
  • Hypermetropia
  • Abnormality of skin pigmentation
  • Congenital blindness
  • Undetectable electroretinogram

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 5; Lca5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
LCA5 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LCA5
Specificity
100 %
Genes
100 %
LCA5 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LCA5
Specificity
100 %
Genes
100 %
LCA5 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LCA5
Specificity
100 %
Genes
100 %
LCA5 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

LCA5
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 43 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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