Leber congenital amaurosis
| Leber congenital amaurosis | |
|---|---|
| Other names | Leber's congenital amaurosis |
| Specialty | Ophthalmology |
| Symptoms | Visual impairment, sensitivity to light[1] |
| Types | > 12 types[1] |
| Causes | Genetic (autosomal recessive)[1] |
| Frequency | 1 in 40,000 newborns[1] |
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.[2]
It affects about 1 in 40,000 newborns.[1] LCA was first described by Theodor Leber in the 19th century.[3][4] It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber.
One form of LCA was successfully treated with gene therapy in 2008.[5][6][7][8]
- ^ a b c d e "Leber congenital amaurosis". Genetics Home Reference. August 2010. Retrieved 14 May 2017.
- ^ Stone EM (December 2007). "Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture". American Journal of Ophthalmology. 144 (6): 791–811. doi:10.1016/j.ajo.2007.08.022. PMID 17964524.
- ^ Leber's congenital amaurosis at Whonamedit?
- ^ Leber T (1869). "Über Retinitis pigmentosa und angeborene Amaurose". Archiv für Ophthalmologie (in German). 15 (3): 1–25. doi:10.1007/BF02721213. S2CID 543893.
- ^ Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, et al. (May 2008). "Safety and efficacy of gene transfer for Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2240–8. doi:10.1056/NEJMoa0802315. PMC 2829748. PMID 18441370.
- ^ Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, et al. (March 2010). "Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration". Molecular Therapy. 18 (3): 643–50. doi:10.1038/mt.2009.277. PMC 2839440. PMID 19953081.
- ^ Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, et al. (August 2009). "Vision 1 year after gene therapy for Leber's congenital amaurosis". The New England Journal of Medicine. 361 (7): 725–7. doi:10.1056/NEJMc0903652. PMC 2847775. PMID 19675341.
- ^ Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, et al. (May 2008). "Effect of gene therapy on visual function in Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2231–9. CiteSeerX 10.1.1.574.4003. doi:10.1056/NEJMoa0802268. PMID 18441371.