...References References 1. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, et al: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt's macular dystrophy. Nat Genet 1997;15:236-246. 2. Allikmets R, Shroyer NF, Singh N...

... of the human disease sequence. Hum Mol Genet 2004;13:525–534. 8. Lambertus S, Van Huet RAC, Bax NM, et al: Early-onset Stargardt disease: phenotypic and genotypic characteristics. Ophthalmology 2015;122:335–344. 9. Fujinami K, Zernant J, Chana RK, et al: Clinical and molecular characteristics...

... Abstract While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share features of AMD. These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis...

... Abstract Inherited retinal dystrophies comprise a group of heterogeneous disorders which share progressive loss of photoreceptor function accompanied by visual loss. Retinitis pigmentosa (RP) and Stargardt disease (STGD) are two of the most common retinal dystrophies. Although many factors...

... to photoreceptor degeneration, which can be generalized, as in retinitis pigmentosa or show predilection for the macular area, as in Stargardt disease or Best’s disease. Depending on the localization of the photoreceptor damage, symptoms will include nyctalopia, photophobia, dyschromatopsia and central vision loss...

... and structure of the mRNA. Genomics 1991;10:733-739 20. Stargardt K: Über familiäre, progressive Degeneration in der Maculagegend des Auges. Albrecht Von Graefes Arch Ophthalmol 1909;71:534-550 21. Franceschetti A François J: Fundus flavimaculatus. Arch Ophthalmol (Paris) 1965;25:505-530 22...

... accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci U S A 2003;100:4742-4747. 25. Ma L, Kaufman Y, Zhang J, Washington I: C20-D3-vitamin A slows lipofuscin accumulation and electrophysiological retinal degeneration in a mouse model of Stargardt disease. J Biol...

... by prevalent central involvement, most frequently including Stargardt's disease, Best vitelliform macular dystrophy, pattern dystrophy of the retinal pigment epithelium, cone-rod and cone dystrophies, and central areolar choroidal dystrophy. All of these disorders typically show alterations at the level...

..., Stargardt disease and choroidermia, “bleaching” is less apparent [ 14 ]. Fig. 2 A 30° fundus autofluorescence (FAF) image ( a ) and a 55° FAF image ( b ) taken immediately after the first image. An increase in the FAF signal termed “bleaching” is clearly visible as indicated by the arrowheads...

... of patients [ 22 ,] generating new hopes regarding the effects of gene therapy in hereditary dystrophies. Stargardt's Disease Stargardt's disease (STGD) is a macular dystrophy with autosomal recessive inheritance in most cases. Normally, STGD is characterized by early onset, slow loss of central vision...

...: Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time. Arch Ophthalmol 2012;130:171-179. 87. Cideciyan AV, Swider M, Schwartz SB, Stone EM, Jacobson SG: Predicting progression of ABCA4-associated retinal degenerations based on longitudinal measurements of the leading...

..., including toxic retinopathy in response to chloroquine and hydroxychloroquine exposure [ 7 ]. In retinal degenerations, automated perimetry can be used to assess macular sensitivity where macular dystrophy (e.g. Stargardt disease, pattern dystrophies) or cone-rod degeneration is suspected. Automated...

... results following ES-derived RPE transplantation in Stargardt disease, a juvenile-onset form of macular degeneration most often caused by a mutation in ABCA4 , which encodes a cell surface pump that transports all trans -retinal from the outer segment disc to the photoreceptor cytoplasm, has recently...

... with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol 1999;117:504-510. 48. Staurenghi G, Bottoni F, Giani A: Clinical applications of diagnostic indocyanine green angiography; in Sadda SR (ed): Retinal Imaging and Diagnostics. Retina, ed 5. Amsterdam, Elsevier, 2013, pp 51-81...

... Ophthalmol 2014;252:1065-1069. 69. Saxena S, Mishra N, Meyer CH: Three-dimensional spectral domain optical coherence tomography in Stargardt disease and fundus flavimaculatus. J Ocul Biol Dis Infor 2012;5:13-18. 70. Querques G, Prato R, Coscas G, Soubrane G, Souied EH: In vivo visualization...

...References References 1.  Jager RD, Mieler WF, Miller JW: Age-related macular degeneration. N Engl J Med 2008;358:2606-2617. 2.  de Jong PTVM: Age-related macular degeneration. N Engl J Med 2006;355:1474-1485. 3.  Walia S, Fishman GA: Natural history of phenotypic changes in Stargardt...

... Sieving PA Travis GH: Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt’s macular degeneration. Proc Natl Acad Sci USA 2003;100:4742-4747 6. Sieving PA Chaudhry P Kondo M , et al: Inhibition of the visual cycle in vivo by 13-cis retinoic acid...

..., Bolognesi G, Bandello F: Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography. Br J Ophthalmol 2016;101:780–785. 33. Reis A, Mateus C, Melo P, Figueira J, Cunha-Vaz J, Castelo-Branco M: Neuroretinal dysfunction with intact blood-retinal barrier...

... and functions of other lipid-dependent receptors and transporters. Stargardt's Disease and Lipofuscin Stargardt's disease, a macular degeneration of juvenile onset, is caused by mutations in both alleles of the ABCA4 gene. ABCA4 is a transporter protein called ATP-binding cassette transporter...