Leber Congenital Amaurosis 15; Lca15

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 (summary by Gu et al., 1997).Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14 ).For a general phenotypic description and a discussion of the 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 15; Lca15

  • Nystagmus
  • Visual impairment
  • Myopia
  • Edema
  • Blindness
  • Rod-cone dystrophy
  • Photophobia
  • Pallor
  • Retinopathy
  • Nyctalopia

And another 15 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Leber Congenital Amaurosis 15; Lca15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
TULP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TULP1
Specificity
100 %
Genes
100 %
TULP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TULP1
Specificity
100 %
Genes
100 %
TULP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TULP1
Specificity
100 %
Genes
100 %
TULP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TULP1
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 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
3 %
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 %

We have 57 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUBEROUS SCLEROSIS 2; TSC2 STEATOCYSTOMA MULTIPLEX

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more