Stargardt-Fundus Flavimaculatus: Recent Advancements and Treatment

References

• Stargardt K. Über familiäre progressive degeneration in der maculagegend des auges. Albrecht von Graefes Arch Klin Ophthalmol 1909;71:534–550
   Google Scholar
• Newsome DA, ed. Retinal Dystrophies and Degenerations. New York: Raven Press, 1988
   Google Scholar
• Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997;15(3):236–246
   PubMed Web of Science ®Google Scholar
• Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993;5(3):308–311
   PubMedGoogle Scholar
• Eagle RC, Jr Lucier AC, Bernardino VB Jr, Yanoff M. Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study. Ophthalmology 1980;87(12):1189–1200
   PubMed Web of Science ®Google Scholar
• Birnbach CD, Jarvelainen M, Possin DE, Milam AH. Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. Ophthalmology 1994;101(7):1211–1219
   PubMed Web of Science ®Google Scholar
• Klien BA, Krill AE. Fundus flavimaculatus: clinical, functional and histopathologic observations. Am J Ophthalmol 1967;64(1):3–23
   PubMedGoogle Scholar
• Dorey CK, Wu G, Ebenstein D, et al. Cell loss in the aging retina: relationship to lipofuscin accumulation and macular degeneration. Invest Ophthalmol Vis Sci 1989;30(8):1691–1699
   PubMed Web of Science ®Google Scholar
• Briggs CE, Rucinski D, Rosenfeld PJ, et al. Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci 2001;42(10):2229–2236
   PubMedGoogle Scholar
• Maugeri A, Klevering BJ, Rohrschneider K, et al. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet 2000;67(4):960–966
   PubMed Web of Science ®Google Scholar
• Vasireddy V, Wong P, Ayyagari R. Genetics and molecular pathology of Stargardt-like macular degeneration. Prog Retin Eye Res 2010;29(3):191–207
   PubMed Web of Science ®Google Scholar
• Kniazeva M, Chiang MF, Morgan B, et al. A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet 1999;64(5):1394–1399
   PubMed Web of Science ®Google Scholar
• Bakall B, Radu RA, Stanton JB, et al. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Exp Eye Res 2007;85(1):34–43
   PubMedGoogle Scholar
• Yi J, Li S, Jia X, et al. Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. Molecular Medicine Reports 2012;6(5):1045–1049
   PubMedGoogle Scholar
• Logan S, Agbaga MP, Chan MD, et al. Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy. Proc Natl Acad Sci U S A 2013;110(14):5446–5451
   PubMedGoogle Scholar
• Scheufele, T, Reichel E, Sandberg MA, eds. Heredofamilial macular degeneration. In: principles and Practice of Ophthalmology, 3rd edn. (Albert DM, Miller JW, Eds.); Philadelphia: Elsevier, 2008; 2261–2274
   Google Scholar
• Fishman GA, Farber M, Patel BS, Derlacki DJ. Visual acuity loss in patients with Stargardt's macular dystrophy. Ophthalmology 1987;94(7):809–814
   PubMedGoogle Scholar
• Noble KG, Carr RE. Stargardt's disease and fundus flavimaculatus. Arch Ophthalmol 1979;97(7):1281–1285
   PubMedGoogle Scholar
• Quellec G, Russell SR, Scheetz TE, et al. Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease. Invest Ophthalmol Vis Sci 2011;52(6):2976–2981
   PubMedGoogle Scholar
• Armstrong JD, Meyer D, Xu S, Elfervig JL. Long-term follow-up of Stargardt's disease and fundus flavimaculatus. Ophthalmology 1998;105(3):448–457; discussion 457–448
   PubMedGoogle Scholar
• Cukras CA, Wong WT, Caruso R, et al. Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time. Arch Ophthalmol 2012;130(2):171–179
   PubMedGoogle Scholar
• Sohn EH, Mullins RF, Stone EM. Macular dystrophies. In: Retina, 5th edn. (Ryan SJ, Schachat AP, Wilkinson CP, et al., Eds.) London: Elsevier, 2013; 852–890
   Google Scholar
• Jayasundera T, Rhoades W, Branham K, et al. Peripapillary dark choroid ring as a helpful diagnostic sign in advanced Stargardt disease. Am J Ophthalmol 2010;149(4):656–660
   PubMed Web of Science ®Google Scholar
• Oldani M, Marchi S, Giani A, et al. Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease. Genet Mol Res 2012;11(4):4342–4350
   PubMedGoogle Scholar
• Zahid S, Jayasundera T, Rhoades W, et al. Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease. Am J Ophthalmol 2013;155(3):465–473
   PubMed Web of Science ®Google Scholar
• Franceschetti A, Francois J. Fundus flavimaculatus. Arch Ophtalmol Rev Gen Ophtalmol 1965;25(6):505–530
   PubMedGoogle Scholar
• Fishman GA. Fundus flavimaculatus: a clinical classification. Arch Ophthalmol 1976;94(12):2061–2067
   PubMedGoogle Scholar
• Deutman AF. The Hereditary Dystrophies of the Posterior Pole of the Eye. Amsterdam: Koninklijke Van Goreum & Co, 1971; 300–323
   Google Scholar
• Itabashi R, Katsumi O, Mehta MC, et al. Stargardt's disease/fundus flavimaculatus: psychophysical and electrophysiologic results. Graefes Arch Clin Exp Ophthalmol 1993;231(10):555–562
   PubMedGoogle Scholar
• Suzuki R, Hirose T. Bull's-eye macular dystrophy associated with peripheral involvement. Ophthalmologica 1998;212(4):260–267
   PubMedGoogle Scholar
• Delori FC, Dorey CK. In vivo technique for autofluorescent lipopigments. Methods Mol Biol 1998;108:229–243
   PubMedGoogle Scholar
• Radu RA, Mata NL, Bagla A, Travis GH. Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration. Proc Natl Acad Sci U SA 2004;101(16):5928–5933
   PubMedGoogle Scholar
• Wroblewski JJ, Gitter KA, Cohen G, Schomaker K. Indocyanine green angiography in Stargardt's flavimaculatus. Am J Ophthalmol 1995;120(2):208–218
   PubMedGoogle Scholar
• Testa F, Rossi S, Sodi A, et al. Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci 2012;53(8):4409–4415
   PubMedGoogle Scholar
• Burke TR, Tsang SH. Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet 2011;32(3):165–174
   PubMed Web of Science ®Google Scholar
• Cella W, Greenstein VC, Zernant-Rajang J, et al. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. Exp Eye Res 2009;89(1):16–24
   PubMedGoogle Scholar
• Burke TR, Yzer S, Zernant J, et al. Abnormality in the external limiting membrane in early Stargardt Disease. Ophthalmic Genet 2012; 34(1–2):75–77
   PubMedGoogle Scholar
• Anastasakis A, Fishman GA, Lindeman M, et al. Infrared scanning laser ophthalmoscope imaging of the macula and its correlation with functional loss and structural changes in patients with Stargardt disease. Retina 2011;31(5):949–958
   PubMedGoogle Scholar
• Gerth C, Andrassi-Darida M, Bock M, et al. Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch Clin Exp Ophthalmol 2002;240(8):628–638
   PubMedGoogle Scholar
• Sandberg MA, Jacobson SG, Berson EL. Foveal cone electroretinograms in retinitis pigmentosa and juvenile maular degeneration. Am J Ophthalmol 1979;88(4):702–707
   PubMedGoogle Scholar
• Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol 2001;119(3):359–369
   PubMedGoogle Scholar
• Jaakson K, Zernant J, Kulm M, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat 2003;22(5):395–403
   PubMed Web of Science ®Google Scholar
• Han Z, Conley SM, Makkia RS, et al. DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice. J Clin Invest 2012;122(9):3221–3226
   PubMed Web of Science ®Google Scholar
• Schwartz SD, Hubschman JP, Heilwell G, et al. Embryonic stem cell trials for macular degeneration: a preliminary report. Lancet 2012;379(9817):713–720
   PubMed Web of Science ®Google Scholar
• Jin ZB, Takahashi M. Generation of retinal cells from pluripotent stem cells. Progress in Brain Research 2012;201:171–181
   PubMedGoogle Scholar
• Cuevas P, Outeirino LA, Angulo J, Gimenez-Gallego G. Treatment of Stargardt disease with dobesilate [published online Oct 12 2012]. BMJ Case Rep 2012. doi: 10.1136/bcr-2012-007128 [last accessed Feb 2012]
   Google Scholar
• Rekik R, Charfeddine R. Priminary observations of the effects of ACE inhibitor ramipril in patients with Stargardt's disease. Acta Ophthalmologica 2012;90(s249) . http://casereports.bmj.com/content/2012/bcr-2012-007128.long [last accessed 9 Sep 2013]
   Google Scholar