Clinical phenotypes and prognostic full-field electroretinographic findings in stargardt disease

American Journal of Ophthalmology

Volumn 155, Issue 3, 2013, Pages 465-473.e3

  Zahid, Sarwar ^a   Jayasundera, Thiran ^a   Rhoades, William ^a   Branham, Kari ^a   Khan, Naheed ^a   Niziol, Leslie M ^a   Musch, David C ^a,b   Heckenlively, John R ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN; UNCLASSIFIED DRUG;

A WAVE; ADOLESCENT; ADULT; ARTICLE; B WAVE; CENTRAL SCOTOMA; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENCE ANGIOGRAPHY; FOLLOW UP; FULL FIELD ELECTRORETINOGRAPHY; GENE MUTATION; HUMAN; IMAGING SOFTWARE; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RETINA MACULA DEGENERATION; RETROSPECTIVE STUDY; SCOTOMA; STARGARDT DISEASE; VISUAL ACUITY; VISUAL FIELD; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT;

EID: 84873729428     PISSN: 00029394     EISSN: 18791891     Source Type: Journal    
DOI: 10.1016/j.ajo.2012.09.011     Document Type: Article

References (30)

1. R. Allikmets, N. Singh, and H. Sun A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Nat Genet 15 3 1997 236 246
2. C. Ayuso, B. Garcia-Sandoval, C. Najera, D. Valverde, M. Carballo, and G. Antinolo Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa Clin Genet 48 3 1995 120 122
3. P. Blacharski Fundus flavimaculatus D.A. Newsome, Retinal Dystrophies and Degenerations 1988 Raven Press New York 135 159
4. A. Martinez-Mir, M. Bayes, and L. Vilageliu A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21 Genomics 40 1 1997 142 146
5. A. Martinez-Mir, E. Paloma, and R. Allikmets Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR Nat Genet 18 1 1998 11 12
6. J.M. Rozet, S. Gerber, and I. Ghazi Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus J Med Genet 36 6 1999 447 451
7. K. Stargardt Über familiäre, progressive Degeneration in der Maculagegend des Auges Graefes Arch Ophthalmol 71 1909 534 550
8. C. Westerfeld, and S. Mukai Stargardt's disease and the ABCR gene Semin Ophthalmol 23 1 2008 59 65
9. K.G. Noble, and R.E. Carr Stargardt's disease and fundus flavimaculatus Arch Ophthalmol 97 7 1979 1281 1285
10. L.C. Glazer, and T.P. Dryja Understanding the etiology of Stargardt's disease Ophthalmol ClinNorth Am 15 1 2002 93 100 viii
11. N. Lois, G.E. Holder, C. Bunce, F.W. Fitzke, and A.C. Bird Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus Arch Ophthalmol 119 3 2001 359 369
12. T.M. Aaberg Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence Trans Am Ophthalmol Soc 84 1986 453 487
13. J.D. Armstrong, D. Meyer, S. Xu, and J.L. Elfervig Long-term follow-up of Stargardt's disease and fundus flavimaculatus Ophthalmology 105 3 1998 448 457 discussion 457-458
14. G.A. Fishman, E.M. Stone, S. Grover, D.J. Derlacki, H.L. Haines, and R.R. Hockey Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene Arch Ophthalmol 117 4 1999 504 510
15. O.B. Hadden, and J.D. Gass Fundus flavimaculatus and Stargardt's disease Am J Ophthalmol 82 4 1976 527 539
16. P. Lachapelle, J.M. Little, and M.S. Roy The electroretinogram in Stargardt's disease and fundus flavimaculatus Doc Ophthalmol 73 4 1989 395 404
17. J.B. Moloney, D.J. Mooney, and M.A. O'Connor Retinal function in Stargardt's disease and fundus flavimaculatus Am J Ophthalmol 96 1 1983 57 65
18. K.T. Oh, R.G. Weleber, D.M. Oh, A.M. Billingslea, J. Rosenow, and E.M. Stone Clinical phenotype as a prognostic factor in Stargardt disease Retina 24 2 2004 254 262
19. K.T. Oh, R.G. Weleber, E.M. Stone, D.M. Oh, J. Rosenow, and A.M. Billingslea Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus Retina 24 6 2004 920 928
20. F. Simonelli, F. Testa, and J. Zernant Genotype-phenotype correlation in Italian families with Stargardt disease Ophthalmic Res 37 3 2005 159 167
21. M.A. Genead, G.A. Fishman, E.M. Stone, and R. Allikmets The natural history of Stargardt disease with specific sequence mutation in the ABCA4 gene Invest Ophthalmol Vis Sci 50 12 2009 5867 5871
22. K. Jaakson, J. Zernant, and M. Kulm Genotyping microarray (gene chip) for the ABCR (ABCA4) gene Hum Mutat 22 5 2003 395 403
23. R.A. Lewis, N.F. Shroyer, and N. Singh Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease Am J Hum Genet 64 2 1999 422 434
24. S. Maia-Lopes, J. Aguirre-Lamban, M. Castelo-Branco, R. Riveiro-Alvarez, C. Ayuso, and E.D. Silva ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis Mol Vis 15 2009 584 591
25. M.F. Marmor, A.B. Fulton, G.E. Holder, Y. Miyake, M. Brigell, and M. Bach ISCEV standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 1 2009 69 77
26. K. Schulze-Bonsel, N. Feltgen, H. Burau, L. Hansen, and M. Bach Visual acuities "hand motion" and "counting fingers" can be quantified with the Freiburg visual acuity test Invest Ophthalmol Vis Sci 47 3 2006 1236 1240
27. G.A. Fishman Fundus flavimaculatus. A clinical classification Arch Ophthalmol 94 12 1976 2061 2067
28. P.J. Ernest, C.J. Boon, B.J. Klevering, L.H. Hoefsloot, and C.B. Hoyng Outcome of ABCA4 microarray screening in routine clinical practice Mol Vis 15 2009 2841 2847
29. C.E. Briggs, D. Rucinski, P.J. Rosenfeld, T. Hirose, E.L. Berson, and T.P. Dryja Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration Invest Ophthalmol Vis Sci 42 10 2001 2229 2236
30. R.A. Radu, Q. Yuan, and J. Hu Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following vitamin A supplementation Invest Ophthalmol Vis Sci 49 9 2008 3821 3829