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Ophthalmic Genetics Volume 39, 2018 - Issue 1
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Case Reports

Double hyperautofluorescent ring on fundus autofluorescence in ABCA4

Maria Fernanda AbalemDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USA;Department of Ophthalmology and Otolaryngology, University of Sao Paulo Medical School, Sao Paulo, BrazilView further author information
,
Cynthia X. QianDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USA;Department of Ophthalmology, Maisonneuve-Rosemont Hospital Research Centre, University of Montreal, Montreal, Quebec, CanadaView further author information
,
Kari BranhamDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USAView further author information
,
Dana SchlegelDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USAView further author information
,
Abigail T. FahimDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USAView further author information
,
Naheed W. KhanDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USAView further author information
,
John R. HeckenlivelyDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USAView further author information
&
K. Thiran JayasunderaDepartment of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USACorrespondence[email protected]
View further author information
 show all
Pages 87-91 | Received 17 Mar 2017, Accepted 14 May 2017, Published online: 20 Jul 2017

References

  • 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.
  • Cideciyan AV, Aleman TS, Swider M, et al. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet 2004;13(5):525–534.
  • Fujinami K, Zernant J, Chana RK, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology. 2015;122(2):326–334.
  • Lambertus S, van Huet RA, Bax NM, et al. Early-onset Stargardt disease: phenotypic and genotypic characteristics. Ophthalmology. 2015;122(2):335–344.
  • McBain VA, Townend J, Lois N. Progression of retinal pigment epithelial atrophy in Stargardt disease. Am J Ophthalmol 2012;154(1):146–154.
  • Strauss RW, Ho A, Munoz B, et al. The natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) studies: design and baseline characteristics: ProgStar Report No. 1. Ophthalmology 2016;123(4):817–828.
  • Escher P, Tran HV, Vaclavik V, et al. Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa. Invest Ophthalmol Visual Sci 2012;53(8):4754–4764.
  • Escher P, Vaclavik V, Munier FL, Tran HV. Presence of a triple concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP). Invest Ophthalmol Visual Sci 2016;57(4):2001–2002.
  • Trichonas G, Traboulsi EI, Ehlers JP. Ultra-widefield fundus autofluorescence patterns in retinitis pigmentosa and other retinal dystrophies. Ophthalmic Genet. 2017;38(1):98–100.
  • Fukui T, Yamamoto S, Nakano K, et al. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. Invest Ophthalmol Visual Sci 2002;43(9):2819–2824.
  • Robson AG, Michaelides M, Saihan Z, et al. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Documenta ophthalmologica Adv Ophthalmol 2008;116(2):79–89.
  • Robson AG, Tufail A, Fitzke F, et al. Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa. Retina (Philadelphia, Pa). 2011;31(8):1670–1679.
  • Popovic P, Jarc-Vidmar M, Hawlina M. Abnormal fundus autofluorescence in relation to retinal function in patients with retinitis pigmentosa. Graefe’s Arch Clin Exp Ophthalmol = Albrecht von Graefes Archiv fur klinische und Exp Ophthalmol 2005;243(10):1018–1027.
  • Sodi A, Bini A, Passerini I, et al. Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease. Ophthalmic Surg Lasers Imaging Off J Int Soc Imaging Eye 2010;41(1):48–53.
  • von Ruckmann A, Fitzke FW, Bird AC. Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol 1995;79(5):407–412.
  • Robson AG, Saihan Z, Jenkins SA, et al. Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Br J Ophthalmol 2006;90(4):472–9.
  • Cukras CA, Wong WT, Caruso R, et al. Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time. Arch Ophthalmol (Chicago, Ill: 1960) 2012;130(2):171–179.
  • Burke TR, Rhee DW, Smith RT, et al. Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1). Invest Ophthalmol Visual Sci 2011;52(11):8006–8015.
  • Cideciyan AV, Swider M, Aleman TS, et al. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Visual Sci 2005;46(12):4739–4746.
  • 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):656–60.e2.
  • Sharon D, Bruns GA, McGee TL, et al. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Visual Sci 2000;41(9):2712–2721.
  • Tee JJ, Smith AJ, Hardcastle AJ, Michaelides M. RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol 2016;100(8):1022–1027.

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