Novel RDH12 sequence variations in leber congenital amaurosis

Journal of AAPOS

Volumn 14, Issue 4, 2010, Pages 349-351

  Sodi, Andrea ^a   Caputo, Roberto ^b   Passerini, Ilaria ^c   Maria Bacci, Giacomo ^b   Menchini, Ugo ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ELECTRORETINOGRAPHY; EYE EXAMINATION; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; MOLECULAR GENETICS; MUTATION; NYSTAGMUS; OPHTHALMOSCOPY; PHENOTYPE; PRIORITY JOURNAL; RDH12 GENE; RETINA MALFORMATION; RETINOPATHY; SCHOOL CHILD; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ALCOHOL OXIDOREDUCTASES; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA; ELECTRORETINOGRAPHY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 77956213585     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2010.04.010     Document Type: Article

References (10)

1. A.I. den Hollander, R. Roepman, R.K. Koenekoop, and F.P.M. Cremers Leber congenital amaurosis: Genes, proteins and disease mechanisms Prog Ret Eye Res 27 2008 391 419
2. D.C. Chung, and E.I. Traboulsi Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions J AAPOS 13 2009 587 592
3. P. Colella, G. Cotugno, and A. Auricchio Ocular gene therapy: Current progress and future prospects Trends Mol Med 15 2008 23 31
4. D.A. Thompson, A.R. Janecke, and J. Lange Retinal degeneration associated with RDH12 mutations results from decreased 11- cis retinal due to disruption of the visual cycle Hum Mol Genet 14 2005 3865 3875
5. I. Perrault, S. Hanein, and S. Gerber Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis Am J Hum Genet 75 2004 639 646
6. A. Schuster, A.R. Janecke, and R. Wilke The phenotype of early onset retinal degeneration in persons with RDH12 mutations Invest Ophthalmol Vis Sci 48 2007 1824 1831
7. S.G. Jacobson, A.V. Cideciyan, and T.S. Aleman RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, differ in disease expression Invest Ophthalmol Vis Sci 48 2007 332 338
8. D. Valverde, I. Pereiro, E. Vallespín, C. Ayuso, S. Borrego, and M. Baiget Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations Inv Ophthalmol Vis Sci 50 2009 1065 1068
9. A.V. Drack, R. Johnston, and E.M. Stone Which Leber congenital amaurosis patients are eligible for gene therapy trials? J AAPOS 13 2009 463 465
10. E. Heon My child has Leber congenital amaurosis: Why is he/she not eligible for gene therapy trials? J AAPOS 13 2009 533 534