http://orcid.org/0000-0001-9932-0730
References
- Allikmets R. Leber congenital amaurosis: a genetic paradigm. Ophthalmic Genet. 2004;25:67–79. doi: 10.1080/13816810490514261.
- Kumaran N, Moore AT, Weleber RG, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017;101:1147–1154. doi: 10.1136/bjophthalmol-2016-309975.
- Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases. 2015;3:112. doi: 10.12998/wjcc.v3.i2.112.
- Testa F, Surace EM, Rossi S, Marrocco E, Gargiulo A, Di Iorio V, Ziviello C, Nesti A, Fecarotta S, Bacci ML, et al. Evaluation of Italian Patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy. Invest Ophthalmol Vis Sci. 2011;52:5618. doi: 10.1167/iovs.10-6543.
- Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, et al. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. PLoS One. 2012;7:e32330. doi: 10.1371/journal.pone.0032330.
- Rezaie T, Karimi-Nejad M-H, Meshkat M-R, Sohbati S, Karimi-Nejad R, Najmabadi H, Sarfarazi M. Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family. Ophthalmic Genet. 2007;28:224–228. doi: 10.1080/13816810701663550.
- Pennesi ME, Stover NB, Stone EM, Chiang P-W, Weleber RG. Residual electroretinograms in young leber congenital amaurosis patients with mutations of AIPL1. Invest Ophthalmol Vis Sci. 2011;52:8166. doi: 10.1167/iovs.11-8298.
- Coussa RG, Lopez Solache I, Koenekoop RK. Leber congenital amaurosis, from darkness to light: an ode to Irene Maumenee. Ophthalmic Genet. 2017;38:7–15. doi: 10.1080/13816810.2016.1275021.