Leber congenital amaurosis

[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]