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Review

Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Neruban Kumaran  1   2 , Mark E Pennesi  3   4 , Paul Yang  4 , Karmen M Trzupek  5 , 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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Free Books & Documents
Review

Nonsyndromic 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

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

  2. 2

    Review the genetic causes of nonsyndromic LCA/EOSRD;

  3. 3

    Review the differential diagnosis of nonsyndromic LCA/EOSRD with a focus on genetic conditions;

  4. 4

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

  5. 5

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

  6. 6

    Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of nonsyndromic LCA/EOSRD.

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References

    1. Aboshiha J, Dubis AM, van der Spuy J, Nishiguchi KM, Cheeseman EW, Ayuso C, Ehrenberg M, Simonelli F, Bainbridge JW, Michaelides M. Preserved outer retina in Aipl1 Leber's congenital amaurosis: implications for gene therapy. Ophthalmology 2015;122:862-4. - PubMed
    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
    1. Balbirsingh V, Daich Varela M, Michaelides M. Clinical characteristics of patients with less common causes of Leber congenital amaurosis/early-onset severe retinal dystrophy. Am J Ophthalmol. 2025;276:297-306. - PubMed
    1. Chung DC, Lee K, Reape KZ, High KA, Lacey S, Viriato D. Long-term effect of voretigene neparvovec on the full-field light sensitivity threshold test of patients with RPE65 mutation-associated inherited retinal dystrophy – post hoc analysis of Phase I trial data. Invest Ophthalmol Vis Sci. 2019;60:3398.

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