Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

JAMA Ophthalmology

Volumn 131, Issue 2, 2013, Pages 178-182

  McAnany, J Jason ^a   Genead, Mohamed A ^b   Walia, Saloni ^b   Drack, Arlene V ^d   Stone, Edwin M ^d,e   Koenekoop, Robert K ^c   Traboulsi, Elias I ^g   Smith, Alison ⁱ   Weleber, Richard G ^h   Jacobson, Samuel G ^f   Fishman, Gerald A ^a,b  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^b Pangere Center for Hereditary Retinal Diseases   (United States)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d UNIVERSITY OF IOWA   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g LERNER RESEARCH INSTITUTE   (United States)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY;

ADOLESCENT; ADULT; ANTIGENS, NEOPLASM; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; VISUAL ACUITY; YOUNG ADULT;

EID: 84874076775     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/2013.jamaophthalmol.354     Document Type: Article

References (17)

1. Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Hum Mol Genet. 2002;11(10):1169-1176.
2. Rivolta C, Berson EL, Dryja TP. Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Hum Mutat. 2001;18(6):488-498.
3. Sohocki MM, Sullivan LS, Mintz-Hittner HA, et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am J Hum Genet. 1998;63(5):1307-1315.
4. den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008; 27(4):391-419.
5. Koenekoop RK. Successful RPE65 gene replacement and improved visual function in humans. Ophthalmic Genet. 2008;29(3):89-91.
6. den Hollander AI, Koenekoop RK, Yzer S, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006; 79(3):556-561.
7. Perrault I, Delphin N, Hanein S, et al. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007;28(4):416.
8. Cideciyan AV, Aleman TS, Jacobson SG, et al. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat. 2007;28(11):1074-1083.
9. Papon JF, Perrault I, Coste A, et al. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. J Med Genet. 2010;47 (12):829-834.
10. Sayer JA, Otto EA, O'Toole JF, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006;38(6):674-681.
11. Valente EM, Silhavy JL, Brancati F, et al; International Joubert Syndrome Related Disorders Study Group. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006; 38(6):623-625.
12. Cideciyan AV, Rachel RA, Aleman TS, et al. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet. 2011;20(7):1411-1423.
13. Grover S, Fishman GA, Anderson RJ, et al. Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. Ophthalmology. 1999;106 (9):1780-1785.
14. Berdeaux GH, Nordmann JP, Colin E, Arnould B. Vision-related quality of life in patients suffering from age-related macular degeneration. Am J Ophthalmol. 2005; 139(2):271-279.
15. Finger RP, Fleckenstein M, Holz FG, Scholl HP. Quality of life in age-related macular degeneration: a review of available vision-specific psychometric tools. Qual Life Res. 2008;17(4):559-574.
16. Heher KL, Traboulsi EI, Maumenee IH. The natural history of Leber's congenital amaurosis: age-related findings in 35 patients. Ophthalmology. 1992;99(2): 241-245.
17. Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis. Am J Ophthalmol. 1989;107(6):624-631.