Leber congenital amaurosis

Definition:

Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA is generally inherited in an autosomal recessive manner, and caused by mutations in more than a dozen genes. Several have been demonstrated as potentially efficacious gene therapy targets.

References:

[1]. Artur V Cideciyan, et al. Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res. 2010 Sep;29(5):398-427. [Content Brief]

[2]. Arundhati Dev Borman, et al. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38. [Content Brief]

[3]. Asimina Mataftsi, et al. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7. [Content Brief]

[4]. Melissa M Liu, et al. Republished review: Gene therapy for ocular diseases. Postgrad Med J. 2011 Jul;87(1029):487-95. [Content Brief]

[5]. Mika Asai-Coakwell, et al. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7):1432-42. [Content Brief]

[6]. Panagiotis I Sergouniotis, et al. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet. 2011 Jul 15;89(1):183-90. [Content Brief]

[7]. Robert K Koenekoop, et al. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet. 2012 Sep;44(9):1035-9. [Content Brief]

[8]. Romain Luscan, et al. Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. [Content Brief]

[9]. Xia Wang, et al. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 Oct;50(10):674-88. [Content Brief]

[10]. Zhen Yi, et al. Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. J Med Genet. 2019 May;56(5):325-331. [Content Brief]

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