Leber Congenital Amaurosis 9; Lca9

Description

Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 (OMIM ) mutations consistently cause severe and rapidly progressive macular degeneration leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Leber Congenital Amaurosis 9; Lca9

  • Nystagmus
  • Visual impairment
  • Optic atrophy
  • Blindness
  • Visual loss
  • Photophobia
  • Pallor
  • Coloboma
  • Nyctalopia
  • Hypermetropia

And another 10 symptoms. If you need more information about this disease we can help you.

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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.


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Leber Congenital Amaurosis 9; Lca9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
NMNAT1 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NMNAT1
Specificity
100 %
Genes
100 %
NMNAT1 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NMNAT1
Specificity
100 %
Genes
100 %
NMNAT1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NMNAT1
Specificity
100 %
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 %
NMNAT1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

NMNAT1
Specificity
100 %
Genes
100 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics (Portugal).

RPE65, TULP1, RPGRIP1, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GDF6, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2, PRPH2
Specificity
5 %
Genes
100 %
Leber congenital amaurosis 9 (LCA9, sequence analysis of NMNAT1 gene).

By CGC Genetics (Portugal).

NMNAT1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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