447
Views
13
CrossRef citations to date
0
Altmetric
Research Reports

Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations*

, , , , &
Pages 150-160 | Received 16 Apr 2014, Accepted 23 Aug 2014, Published online: 29 Sep 2014

References

  • Blacharski PA. Fundus flavimaculatus. In: Newsome DA, editor. Retinal dystrophies and degenerations, 1st ed. New York: Raven Press; 1988. pp 135–159
  • Klevering BJ, Yzer S, Rohrschneider K, et al. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet 2004;12:1024–1032
  • Burke TR, Fishman GA, Zernant J, et al. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci 2012;53:4458–4467
  • Lois N, Holder GE, Bunce C, et al. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol 2001;119:359–369
  • Gemenetzi M, Lotery AJ. Phenotype/genotype correlation in a case series of Stargardt’s patients identifies novel mutations in the ABCA4 gene. Eye (Lond) 2013;27:1316–1319
  • Kjellstrom U. Association between genotype and phenotype in families with mutations in the ABCA4 gene. Mol Vis 2014;20:89–104
  • Fishman GA, Farber M, Patel BS, et al. Visual acuity loss in patients with Stargardt’s macular dystrophy. Ophthalmology 1987;94:809–814
  • Rotenstreich Y, Fishman GA, Anderson RJ. Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology 2003;110:1151–1158
  • 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;13:525–534
  • 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;87:1189–1200
  • Azarian SM, Travis GH. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt’s disease (ABCR). FEBS Lett 1997;409:247–252
  • Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805–1807
  • Sun H, Nathans J. ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans-retinal-mediated photooxidative damage in vitro. Implications for retinal disease. J Biol Chem 2001;276:11766–11774
  • Aguirre-Lamban J, Gonzalez-Aguilera JJ, Riveiro-Alvarez R, et al. Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. Invest Ophthalmol Vis Sci 2011;52:6206–6212
  • Fishman GA, Stone EM, Grover S, et al. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol 1999;117:504–510
  • Fujinami K, Sergouniotis PI, Davidson AE, et al. The clinical effect of homozygous ABCA4 alleles in 18 patients. Ophthalmology 2013;120:2324–2331
  • Genead MA, Fishman GA, Stone EM, et al. The natural history of Stargardt disease with specific sequence mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci 2009;50:5867–5871
  • Michaelides M, Chen LL, Brantley MA Jr, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull’s-eye maculopathy. Br J Ophthalmol 2007;91:1650–1655
  • Lewis RA, Shroyer NF, Singh N, et al. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 1999;64:422–434
  • Webster AR, Heon E, Lotery AJ, et al. An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci 2001;42:1179–1189
  • Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet 2000;67:487–491
  • Guymer RH, Heon E, Lotery AJ, et al. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol 2001;119:745–751
  • Rivera A, White K, Stohr H, et al. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet 2000;67:800–813
  • Ducroq D, Shalev S, Habib A, et al. Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. Eur J Hum Genet 2006;14:1269–1273
  • Rudolph G, Kalpadakis P, Haritoglou C, et al. Mutations in the ABCA4 gene in a family with Stargardt’s disease and retinitis pigmentosa (STGD1/RP19). Klin Monbl Augenheilkd 2002;219:590–596
  • Maugeri A, van Driel MA, van de Pol DJ, et al. The 2588G–>C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 1999;64:1024–1035
  • 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;89:16–24
  • Chen Y, Ratnam K, Sundquist SM, et al. Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease. Invest Ophthalmol Vis Sci 2011;52:3281–3292
  • Chen Y, Roorda A, Duncan JL. Advances in imaging of Stargardt disease. Adv Exp Med Biol 2010;664:333–340
  • Lois N, Halfyard AS, Bird AC, et al. Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. Am J Ophthalmol 2004;138:55–63
  • Sparrow JR, Boulton M. RPE lipofuscin and its role in retinal pathobiology. Exp Eye Res 2005;80:595–606
  • Brunk UT, Terman A. Lipofuscin: mechanisms of age-related accumulation and influence on cell function. Free Radic Biol Med 2002;33:611–619
  • Ng KP, Gugiu B, Renganathan K, et al. Retinal pigment epithelium lipofuscin proteomics. Mol Cell Proteomics 2008;7:1397–1405
  • Katz ML, Redmond TM. Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 2001;42:3023–3030
  • Sieving PA, Chaudhry P, Kondo M, et al. Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy. Proc Natl Acad Sci USA 2001;98:1835–1840
  • Radu RA, Han Y, Bui TV, et al. Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: a potential therapy for treatment of lipofuscin-based retinal diseases. Invest Ophthalmol Vis Sci 2005;46:4393–4401
  • Radu RA, Mata NL, Nusinowitz S, et al. 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
  • Maiti P, Kong J, Kim SR, et al. Small molecule RPE65 antagonists limit the visual cycle and prevent lipofuscin formation. Biochemistry 2006;45:852–860
  • Sun H, Smallwood PM, Nathans J. Biochemical defects in ABCR protein variants associated with human retinopathies. Nat Genet 2000;26:242–246
  • Hong DH, Pawlyk BS, Shang J, et al. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA 2000;97:3649–3654
  • Bonilha VL, Trzupek KM, Li Y, et al. Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genet 2008;29:99–110
  • Curcio CA, Allen KA, Sloan KR, et al. Distribution and morphology of human cone photoreceptors stained with anti-blue opsin. J Comp Neurol 1991;312:610–624
  • Milam AH, Rose L, Cideciyan AV, et al. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci USA 2002;99:473–478
  • To KW, Adamian M, Jakobiec FA, et al. Histopathologic and immunohistochemical study of an autopsy eye with X-linked cone degeneration. Arch Ophthalmol 1998;116:100–103
  • Mata NL, Weng J, Travis GH. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc Natl Acad Sci USA 2000;97:7154–7159
  • Weng J, Mata NL, Azarian SM, et al. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt’s disease from the phenotype in abcr knockout mice. Cell 1999;98:13–23
  • van der Burght BW, Hansen M, Olsen J, et al. Early changes in gene expression induced by blue light irradiation of A2E-laden retinal pigment epithelial cells. Acta Ophthalmol 2013;91:e537–545
  • De S, Sakmar TP. Interaction of A2E with model membranes. Implications to the pathogenesis of age-related macular degeneration. J Gen Physiol 2002;120:147–157
  • Ma W, Coon S, Zhao L, et al. A2E accumulation influences retinal microglial activation and complement regulation. Neurobiol Aging 2013;34:943–960
  • Wielgus AR, Chignell CF, Ceger P, et al. Comparison of A2E cytotoxicity and phototoxicity with all-trans-retinal in human retinal pigment epithelial cells. Photochem Photobiol 2010;86:781–791
  • Maeda A, Maeda T, Golczak M, et al. Involvement of all-trans-retinal in acute light-induced retinopathy of mice. J Biol Chem 2009;284:15173–15183
  • Travis GH, Golczak M, Moise AR, et al. Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. Annu Rev Pharmacol Toxicol 2007;47:469–512
  • Park SP, Chang S, Allikmets R, et al. Disruption in Bruch membrane in patients with Stargardt disease. Ophthalmic Genet 2012;33:49–52
  • Radu RA, Hu J, Yuan Q, Welch DL, et al. Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration. J Biol Chem 2011;286:18593–18601
  • Birnbach CD, Jarvelainen M, Possin DE, et al. Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. Ophthalmology 1994;101:1211–1219

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.