Prenatal human ocular degeneration occurs in Leber's congenital amaurosis: (LCA1 and 2)

Advances in Experimental Medicine and Biology

Volumn 533, Issue , 2003, Pages 59-68

  Porto, Fernanda B O ^a,c   Perrault, Isabelle ^b   Hicks, David ^a   Rozet, Jean Michel ^b   Hanoteau, Noëlle ^a   Hanein, Sylvain ^b   Kaplan, Josseline ^b   Sahel, José A ^a  

^a Lab Physiopathol Cell Molec R   (France)

^b U Rech Handicaps Genetiques l'E   (France)

^c FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATIC HYDROCARBON RECEPTOR; CYCLIC GMP; GUANOSINE TRIPHOSPHATASE; GUANYLATE CYCLASE; HOMEODOMAIN PROTEIN; RHODOPSIN;

CASE REPORT; CONE ROD HOMEOBOX; CONFERENCE PAPER; CONGENITAL BLINDNESS; CONTROLLED STUDY; ENUCLEATION; FETUS; GENE; GUCY2D GENE; HISTOLOGY; HOMEOBOX; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEBER CONGENITAL AMAUROSIS; PEDIGREE ANALYSIS; PHOTORECEPTOR; PRENATAL DISORDER; PRIORITY JOURNAL; RETGC1 GENE; RETINA DEGENERATION; RETINA DISEASE; RETINA DYSTROPHY; RPE65 GENE; RPGRIP1 GENE;

EID: 0348162576     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-0067-4_8     Document Type: Conference Paper

References (20)

1. Acland G.M., 2001, Gene therapy restores vision in a canine model of childhood blindness. Nature Genet. 28:92-95.
2. Camuzat A. et al., 1996, Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. Hum Genet. 97:798-801.
3. Cooper N, Liu L, Yoshida A, Pozdnyakov N, Margulis A, Sitaramayya A, 1995, The bovine rod outer segment guanylate cyclase, ROS-GC, is present in both outer segment and synaptic layers of the retina. J Mol Neurosci. 6:211-222.
4. Dejneka, NS & Bennett, J, 2001, Gene therapy and retinitis pigmentosa: advances and future challenges. Bioessays 23:662-668.
5. Dizhoor AM, Lowe DG, Olshevskaya EV, Laura RP, Hurley JB, The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator. Neuron 12:1345-1352.
6. Duda T, Venkataraman V, Goraczniak R, Lange C, Koch KW, Sharma RK, 1998, Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. Bioch. 38:509-515.
7. Gu S.M. et al., 1997, Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nature Genet. 17:194-197.
8. Humphries M.M. et al., 1997, Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet 15:216-219.
9. Kaplan J, Bonneau D, Frezal J, Munnich A, Dufier JL, 1990, Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet. 85:635-642.
10. Kumar JP and Ready, DF, 1995, Rhodopsin plays an essential structural role in Drosophila photoreceptor development. Development 121:4359-4370.
11. Lathrop GM et al., 1985, Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 37:482-498.
12. Liu X, Seno K, Nishizawa Y, Hayashi F, Yamazaki A, Matsumoto H, Wakabayashi T, Usukura J, 1994, Ultrastructural localization of retinal guanylate cyclase in human and monkey retinas. Exp. Eye Res. 59:761-768.
13. Perrault, I et al., 1996, Retinal-specific guanylate cyclase gene mutations in Leber congenital amaurosis. Nature Genet. 14:461-464.
14. Perrault I, Rozet JM, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier JL, Munnich A, Kaplan J, 1999, Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet. 64:1225-1228.
15. Porto FBO, Perrault I, Hicks D et al., 2002, Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). J Gene Med. 4,390-396.
16. Redmond, TM et al., 1998, Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nature Genet. 20:344-351.
17. Semple-Rowland SL, Lee NR, Van Hooser JP, Paazewski K and Bachr W, 1998, A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci USA. 95:1271-1276.
18. Van Hooser J.P. et al., 2000, Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci USA. 97:8623-8628.
19. Wrigstad A. et al., 1994, Slowly progressive changes of the retina and retinal pigment epithelium in briard dogs with hereditary retinal dystrophy. A morphological study. Doc Ophthalmol. 87:337-354.
20. Yang RB, Robinson SW, Xiong WH, Yan KW, Birch DG, Garbers DL, 1999, Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior. J Neurosci. 19:5889-97.