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Review

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Neruban Kumaran  1 , Mark E Pennesi  2 , Paul Yang  2 , Karmen M Trzupek  3 , Catherine Schlechter  4 , Anthony T Moore  5   6 , Richard G Weleber  4 , Michel Michaelides  1
Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Review

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Neruban Kumaran et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD);

  2. 2

    Review the genetic causes of LCA/EOSRD;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of LCA/EOSRD in a proband (when possible);

  4. 4

    Inform (when possible) medical management of LCA/EOSRD based on genetic cause;

  5. 5

    Inform genetic counseling for LCA/EOSRD.

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References

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    1. Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013;23:236-47. - PMC - PubMed
    1. Aldahmesh MA, Al-Owain M, Alqahtani F, Hazzaa S, Alkuraya FS. A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis. 2010;16:207-12. - PMC - PubMed
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