Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations

American Journal of Ophthalmology

Volumn 137, Issue 2, 2004, Pages 375-377

  Al Khayer, Kholoud ^a   Hagstrom, Stephanie ^a   Pauer, Gayle ^a   Zegarra, Hernando ^a   Sears, Jonathan ^a   Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DNA SEQUENCE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; LEBER CONGENITAL AMAUROSIS; MEDICAL EXAMINATION; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL ACUITY; VISUAL FIELD DEFECT;

EID: 1242338763     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(03)00913-9     Document Type: Article

References (7)

1. Cremers F.P.M., van Den Hurk J.A.J.M., den Hollander A.I. Molecular genetics of Leber congenital amaurosis. Hum Mol Genet. 10:2002;1169-1176.
2. Lottery A.J., Namperumalsamy P., Jacobson S.G., et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol. 118:2000;538-543.
3. Gu S.M., Thomson D.A., Srikumari C.R., et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 17:1997;139-141.
4. Marlhens F., Bareil C., Griffoin J.M., et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 17:1997;139-141.
5. Perrault I., Rozet J.-M., Ghazi I., et al. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet. 64:1999;1225-1228.
6. van Hooser J.P., Liang Y., Maeda T., et al. Recovery of visual functions in a mouse model of Leber congenital amaurosis. J Biol Chem. 277:2002;19173-19182.
7. Narfstrom K., Katz M.L., Bragadottir R., et al. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci. 44:2003;1663-1672.