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It was first described by Theodore Leber in the 19th century. (It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodore Leber.)
Amaurosis refers to a loss of vision not associated with a lesion, and congenital refers to a condition present from birth (not acquired). However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes.
Project 3000, a foundation started by Chicago Cubs first baseman Derrek Lee and Boston Celtics owner Wyc Grousbeck, works to have the approximately 3,000 people in the United States with the disease genetically tested. 
Genetic tests and research are currently being performed at the University of Iowa Carver Lab by Drs. Edwin Stone and Val Sheffield.
Researchers at Moorfields Eye Hospital and University College London in London are conducting the first gene therapy clinical trial for patients with RPE65 LCA. The first patient, Robert Johnson was operated upon in early 2007, and it is hoped that eleven more will follow as the trial proceeds. There has previously been some success in a mouse model with this approach.
Researchers at Children's Hospital of Philadelphia and the University of Pennsylvania have treated six young people via gene thereapy. Eye Surgeon Dr. Al Maguire and gene therapy expert Dr. Jean Bennett developed the technique used by the Children's Hospital. 
- Stone EM (December 2007). Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am. J. Ophthalmol. 144 (6): 791–811.
- Who Named It synd/1189
- Leber T (1869). Über Retinitis pigmentosa und angeborene Amaurose. Archiv für Ophthalmologie 15 (3): 1–25.
- Perrault I, Rozet JM, Calvas P, et al (1996). Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat. Genet. 14 (4): 461–4.
- Marlhens F, Bareil C, Griffoin JM, et al (1997). Mutations in RPE65 cause Leber's congenital amaurosis. Nat. Genet. 17 (2): 139–41.
- Preising MN, Paunescu K, Friedburg C, Lorenz B (2007). [Genetic and clinical heterogeneity in LCA patients. The end of uniformity]. Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 104 (6): 490–8.
- Yzer S, Leroy BP, De Baere E, et al (2006). Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 47 (3): 1167–76.
- BBC NEWS. URL accessed on 2007-09-21.
- OMIM 204000
- Traboulsi EI, Koenekoop R, Stone EM (2006). Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis. Ophthalmic Genet. 27 (4): 113–5.
- Genetic testing available for Leber's Congenital Amaurosis through Project 3000
- USATODAY.com - Cubs' Lee vows to fight daughter's rare disease. URL accessed on 2007-09-21.
- BBC NEWS. URL accessed on 2007-09-21.
- Pang JJ, Chang B, Kumar A, et al (2006). Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol. Ther. 13 (3): 565–72.
- ABC News: Miracle Cure for Nearly Blind Youth.
- Maguire, Albert M., Simonelli, Francesca, Pierce, Eric A, et al (2008). Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis. N Engl J Med 358: 2240–2248.
- Foundation for Retinal Research
- Leber's Congenital Amaurosis FAQ from WonderBaby.org
- Leber's Congenital Amaurosis Treated with Gene Therapy
Eye disease - pathology of the eye (H00-H59, 360-379)
lacrimal system: Dacryoadenitis - Epiphora - Dacryocystitis
orbit: Exophthalmos - Enophthalmos
|Optic nerve and visual pathways||
Optic neuritis - Papilledema - Optic atrophy - Leber's hereditary optic neuropathy - Dominant optic atrophy - Optic disc drusen - Glaucoma - Toxic and nutritional optic neuropathy - Anterior ischemic optic neuropathy
accommodation and refraction
Paralytic strabismus: Ophthalmoparesis - Progressive external ophthalmoplegia - Palsy (III, IV, VI) - Kearns-Sayre syndrome
Other strabismus: Esotropia/Exotropia - Hypertropia - Heterophoria (Esophoria, Exophoria) - Brown's syndrome - Duane syndrome
|Visual disturbances and blindness||
Amblyopia - Leber's congenital amaurosis - Subjective (Asthenopia, Hemeralopia, Photophobia, Scintillating scotoma) - Diplopia - Scotoma - Anopsia (Binasal hemianopsia, Bitemporal hemianopsia, Homonymous hemianopsia, Quadrantanopia) - Color blindness (Achromatopsia, Dichromacy, Monochromacy) - Nyctalopia (Oguchi disease) - Blindness/Low vision
Trachoma - Onchocerciasis
See also congenital
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