Leber Congenital Amaurosis 10; Lca10

Description

Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by den Hollander et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Leber Congenital Amaurosis 10; Lca10

  • Seizures
  • Visual impairment
  • Blindness
  • Cerebellar atrophy
  • Visual loss
  • Retinal dystrophy
  • Congenital blindness
  • Severe vision loss
  • Hyposmia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset, and congenital 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 10; Lca10 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 %
CEP290 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
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 %
Joubert Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
17 %
Genes
100 %
CEP290 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CEP290
Specificity
100 %
Genes
100 %

We have 197 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH 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 SPINOCEREBELLAR ATAXIA 6; SCA6 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more