Leber\\\'s_congenital_amaurosis

Leber\'s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life

It was first described by Theodore Leber in the 19th century.synd/1189 at Who Named ItT. Leber. Über Retinitis pigmentosa und angeborene Amaurose. Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. (It should not be confused with Leber\'s hereditary optic neuropathy, which is a different disease also described by Theodore Leber.)

Presentation

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.

LCA is typically characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics

It is an autosomal recessive disorder thought to be caused by abnormal development of photoreceptors.

There is evidence tying type 1 LCA to GUCY2D,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. doi:10.1038/ng1296-461. PMID 8944027.  and type 2 to RPE65.Marlhens F, Bareil C, Griffoin JM, et al (1997). "Mutations in RPE65 cause Leber\'s congenital amaurosis". Nat. Genet. 17 (2): 139–41. doi:10.1038/ng1097-139. PMID 9326927. 

Other genes which have been implicated include CRB1,Preising MN, Paunescu K, Friedburg C, Lorenz B (2007). "[Genetic and clinical heterogeneity in LCA patients. The end of uniformity]" (in German). Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 104 (6): 490–8. doi:10.1007/s00347-007-1533-x. PMID 17525851.  CRX, and AIPL1.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. doi:10.1167/iovs.05-0848. PMID 16505055. BBC NEWS. Retrieved on 2007-09-21.

OMIM currently recognizes 11 types of LCA:OMIM - LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1. Retrieved on 2007-09-21.

The gene CEP290 has been associated with Joubert syndrome, as well as type 10 LCA.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. doi:10.1080/13816810601013146. PMID 17148037. 

Testing

Project 3000,[1] 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 testing available for Leber\'s Congenital Amaurosis through Project 3000USATODAY.com - Cubs\' Lee vows to fight daughter\'s rare disease. Retrieved on 2007-09-21.

Genetic tests and research are currently being performed at the University of Iowa Carver Lab by Drs. Edwin Stone and Val Sheffield.

Treatment

Researchers at Moorfields Eye Hospital and University College London in London are conducting the first gene therapy clinical trial for patients with RPE65 LCA.BBC NEWS. Retrieved on 2007-09-21. 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.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. doi:10.1016/j.ymthe.2005.09.001. PMID 16223604. 

References

External links

• Foundation for Retinal Research
• Leber\'s Congenital Amaurosis FAQ from WonderBaby.org

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