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Xu, C. Leber Congenital Amaurosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4465 (accessed on 27 September 2026).
Xu C. Leber Congenital Amaurosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4465. Accessed September 27, 2026.
Xu, Camila. "Leber Congenital Amaurosis" Encyclopedia, https://encyclopedia.pub/entry/4465 (accessed September 27, 2026).
Xu, C. (2020, December 23). Leber Congenital Amaurosis. In Encyclopedia. https://encyclopedia.pub/entry/4465
Xu, Camila. "Leber Congenital Amaurosis." Encyclopedia. Web. 23 December, 2020.
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Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.
genetic conditions
References
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- Chung DC, Traboulsi EI. Leber congenital amaurosis: clinical correlations withgenotypes, gene therapy trials update, and future directions. J AAPOS. 2009Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. Review.
- Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Lebercongenital amaurosis. Hum Mol Genet. 2002 May 15;11(10):1169-76. Review.
- den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenitalamaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003.Review.
- Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P,Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, DufierJL, Munnich A, Rozet JM, Kaplan J. Leber congenital amaurosis: comprehensivesurvey of the genetic heterogeneity, refinement of the clinical definition, andgenotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat.2004 Apr;23(4):306-17.
- Koenekoop RK, Cremers FP, den Hollander AI. Leber congenital amaurosis:ciliary proteins on the move. Ophthalmic Genet. 2007 Sep;28(3):111-2. Review.
- Koenekoop RK. An overview of Leber congenital amaurosis: a model to understandhuman retinal development. Surv Ophthalmol. 2004 Jul-Aug;49(4):379-98. Review.
- Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F,Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, MorganJI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS,Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnellJW, Leroy BP, Simonelli F, Bennett J. Age-dependent effects of RPE65 gene therapyfor Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5.Erratum in: Lancet. 2010 Jan 2;375(9708):30.
- Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J,Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, KonkleB, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X,Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Safety and efficacy of gene transfer for Leber'scongenital amaurosis. N Engl J Med. 2008 May 22;358(21):2240-8. doi:10.1056/NEJMoa0802315.
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