Leber Congenital Amaurosis 11; Lca11

Description

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).For a general description and a discussion of genetic heterogeneity of LCA, see {204000}.

Clinical Features

Top most frequent phenotypes and symptoms related to Leber Congenital Amaurosis 11; Lca11

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Visual impairment
  • Visual loss
  • Photophobia
  • Hypermetropia
  • High hypermetropia
  • Keratoconus

And another 3 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.

Leber Congenital Amaurosis 11; Lca11 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 %
IMPDH1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IMPDH1
Specificity
100 %
Genes
100 %
IMPDH1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IMPDH1
Specificity
100 %
Genes
100 %
IMPDH1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IMPDH1
Specificity
100 %
Genes
100 %
IMPDH1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

IMPDH1
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 60 more panels with our dedicated tool

Learn more

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 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1