G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy

Experimental Eye Research

Volumn 89, Issue 1, 2009, Pages 16-24

  Cella, Wener ^a   Greenstein, Vivienne C ^a,b   Zernant Rajang, Jana ^a   Smith, Theodore R ^a   Barile, Gaetano ^a   Allikmets, Rando ^a   Tsang, Stephen H ^a  

^a New York Presbyterian Hospital   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

dystrophy; maculopathy; mutation; retinal degeneration; stargardt

Indexed keywords

ABC TRANSPORTER A1; DNA;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOFLUORESCENCE IMAGING; CLINICAL ARTICLE; DNA DETERMINATION; DNA MICROARRAY; ELECTRORETINOGRAPHY; EYE EXAMINATION; EYE FUNDUS; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA FOVEA; RETROSPECTIVE STUDY; SCOTOMA; STARGARDT DISEASE;

ADOLESCENT; ADULT; AGED; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; PERIMETRY; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 67349126591     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2009.02.001     Document Type: Article

References (42)

1. Aaberg T.M. Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. Trans. Am. Ophthalmol. Soc. 84 (1986) 453-487
2. Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am. J. Hum. Genet. 67 (2000) 487-491
3. Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., and Lupski J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 15 (1997) 236-246
4. Ben-Shabat S., Parish C.A., Vollmer H.R., Itagaki Y., Fishkin N., Nakanishi K., and Sparrow J.R. Biosynthetic studies of A2E, a major fluorophore of retinal pigment epithelial lipofuscin. J. Biol. Chem. 277 (2002) 7183-7190
5. Cideciyan A.V., Aleman T.S., Swider M., Schwartz S.B., Steinberg J.D., Brucker A.J., Maguire A.M., Bennett J., Stone E.M., and Jacobson S.G. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum. Mol. Genet. 13 (2004) 525-534
6. Delori F.C., Staurenghi G., Arend O., Dorey C.K., Goger D.G., and Weiter J.J. In vivo measurement of lipofuscin in Stargardt's disease-fundus flavimaculatus. Invest. Ophthalmol. Vis. Sci. 36 (1995) 2327-2331
7. Eldred G.E., and Lasky M.R. Retinal age pigments generated by self-assembling lysosomotropic detergents. Nature 361 (1993) 724-726
8. Fishman G.A., Stone E.M., Grover S., Derlacki D.J., Haines H.L., and Hockey R.R. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch. Ophthalmol. 117 (1999) 504-510
9. Gerth C., Andrassi-Darida M., Bock M., Preising M.N., Weber B.H., and Lorenz B. Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch. Clin. Exp. Ophthalmol. 240 (2002) 628-638
10. Guymer R.H., Heon E., Lotery A.J., Munier F.L., Schorderet D.F., Baird P.N., McNeil R.J., Haines H., Sheffield V.C., and Stone E.M. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch. Ophthalmol. 119 (2001) 745-751
11. Hargitai J., Zernant J., Somfai G.M., Vamos R., Farkas A., Salacz G., and Allikmets R. Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease. Invest. Ophthalmol. Vis. Sci. 46 (2005) 4402-4408
12. Holz F.G., Schutt F., Kopitz J., Eldred G.E., Kruse F.E., Volcker H.E., and Cantz M. Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscin. Invest. Ophthalmol. Vis. Sci. 40 (1999) 737-743
13. Jaakson K., Zernant J., Kulm M., Hutchinson A., Tonisson N., Glavac D., Ravnik-Glavac M., Hawlina M., Meltzer M.R., Caruso R.C., Testa F., Maugeri A., Hoyng C.B., Gouras P., Simonelli F., Lewis R.A., Lupski J.R., Cremers F.P., and Allikmets R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum. Mutat. 22 (2003) 395-403
14. Jang Y.P., Matsuda H., Itagaki Y., Nakanishi K., and Sparrow J.R. Characterization of peroxy-A2E and furan-A2E photooxidation products and detection in human and mouse retinal pigment epithelial cell lipofuscin. J. Biol. Chem. 280 (2005) 39732-39739
15. Kim S.R., Jang Y.P., Jockusch S., Fishkin N.E., Turro N.J., and Sparrow J.R. The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model. Proc. Natl. Acad. Sci. U S A 104 (2007) 19273-19278
16. Klevering B.J., Deutman A.F., Maugeri A., Cremers F.P., and Hoyng C.B. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch. Clin. Exp. Ophthalmol. 243 (2005) 90-100
17. Ko T.H., Fujimoto J.G., Schuman J.S., Paunescu L.A., Kowalevicz A.M., Hartl I., Drexler W., Wollstein G., Ishikawa H., and Duker J.S. Comparison of ultrahigh- and standard-resolution optical coherence tomography for imaging macular pathology. Ophthalmology 112 1922 (2005) e1-e15
18. Kurz-Levin M.M., Halfyard A.S., Bunce C., Bird A.C., and Holder G.E. Clinical variations in assessment of bull's-eye maculopathy. Arch. Ophthalmol. 120 (2002) 567-575
19. Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., and Dean M. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet. 64 (1999) 422-434
20. Liu J., Itagaki Y., Ben-Shabat S., Nakanishi K., and Sparrow J.R. The biosynthesis of A2E, a fluorophore of aging retina, involves the formation of the precursor, A2-PE, in the photoreceptor outer segment membrane. J. Biol. Chem. 275 (2000) 29354-29360
21. Lois N., Halfyard A., Bird A., Holder G., and Fitzke F. Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. Am. J. Ophthalmol. 138 (2004) 55-63
22. Lois N., Holder G.E., Bunce C., Fitzke F.W., and Bird A.C. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch. Ophthalmol. 119 (2001) 359-369
23. Lois N., Holder G.E., Fitzke F.W., Plant C., and Bird A.C. Intrafamilial variation of phenotype in Stargardt macular dystrophy-fundus flavimaculatus. Invest. Ophthalmol. Vis. Sci. 40 (1999) 2668-2675
24. Marmor M.F., Holder G.E., Seeliger M.W., Yamamoto S., and International Society for Clinical Electrophysiology of Vision. Standard for clinical electroretinography (2004 update). Doc. Ophthalmol. 108 (2004) 107-114
25. Michaelides M., Chen L.L., Brantley Jr. M.A., Andorf J.L., Isaak E.M., Jenkins S.A., Holder G.E., Bird A.C., Stone E.M., and Webster A.R. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Br. J. Ophthalmol. 91 (2007) 1650-1655
26. Molday L.L., Rabin A.R., and Molday R.S. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Am. J. Ophthalmol. 130 (2000) 689
27. Radu R.A., Mata N.L., Bagla A., and Travis G.H. Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration. Proc. Natl. Acad. Sci. U S A 101 (2004) 5928-5933
28. Radu R.A., Mata N.L., Nusinowitz S., Liu X., Sieving P.A., and Travis G.H. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc. Natl. Acad. Sci. U S A 100 (2003) 4742-4747
29. Radu R.A., Yuan Q., Hu J., Peng J.H., Lloyd M., Nusinowitz S., Bok D., and Travis G.H. 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 (2008) 3821-3829
30. Rivera A., White K., Stohr H., Steiner K., Hemmrich N., Grimm T., Jurklies B., Lorenz B., Scholl H.P., Apfelstedt-Sylla E., and Weber B.H. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am. J. Hum. Genet. 67 (2000) 800-813
31. Robson A.G., Saihan Z., Jenkins S.A., Fitzke F.W., Bird A., Webster A.R., and Holder G.E. Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Br. J. Ophthalmol. 90 (2006) 472-479
32. Robson A.G., Moreland J.D., Pauleikhoff D., Morrissey T., Holder G.E., Fitzke F.W., Bird A.C., and van Kuijk F.J. Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry. Vision. Res. 43 (2003) 1765-1775
33. Simonelli F., Testa F., Zernant J., Nesti A., Rossi S., Allikmets R., and Rinaldi E. Genotype-phenotype correlation in Italian families with Stargardt disease. Ophthalmic. Res. 37 (2005) 159-167
34. Sparrow J.R., Cai B., Jang Y.P., Zhou J., and Nakanishi K. A2E, a fluorophore of RPE lipofuscin, can destabilize membrane. Adv. Exp. Med. Biol. 572 (2006) 63-68
35. Sparrow J.R., and Boulton M. RPE lipofuscin and its role in retinal pathobiology. Exp. Eye. Res. 80 (2005) 595-606
36. Sparrow J.R., Nakanishi K., and Parish C.A. The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells. Invest. Ophthalmol. Vis. Sci. 41 (2000) 1981-1989
37. Sparrow J.R., Parish C.A., Hashimoto M., and Nakanishi K. A2E, a lipofuscin fluorophore, in human retinal pigmented epithelial cells in culture. Invest. Ophthalmol. Vis. Sci. 40 (1999) 2988-2995
38. Sparrow J.R., Zhou J., Ben-Shabat S., Vollmer H., Itagaki Y., and Nakanishi K. Involvement of oxidative mechanisms in blue-light-induced damage to A2E-laden RPE. Invest. Ophthalmol. Vis. Sci. 43 (2002) 1222-1227
39. Srinivasan V.J., Wojtkowski M., Witkin A.J., Duker J.S., Ko T.H., Carvalho M., Schuman J.S., Kowalczyk A., and Fujimoto J.G. High-definition and 3-dimensional imaging of macular pathologies with high-speed ultrahigh-resolution optical coherence tomography. Ophthalmology 113 2054 (2006) e1-e14
40. Sun H., and Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat. Genet. 17 (1997) 15-16
41. Sun H., Smallwood P.M., and Nathans J. Biochemical defects in ABCR protein variants associated with human retinopathies. Nat. Genet. 26 (2000) 242-246
42. Zernant J., Kulm M., Dharmaraj S., den Hollander A.I., Perrault I., Preising M.N., Lorenz B., Kaplan J., Cremers F.P., Maumenee I., Koenekoop R.K., and Allikmets R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest. Ophthalmol. Vis. Sci. 46 (2005) 3052-3059