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Bondarenko M.T.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN

Zhorzholadze N.V.

FGBU "NII glaznykh bolezneĭ" RAMN

Sheremet N.L.

FGBU "NII glaznykh bolezneĭ" RAMN

Ronzina I.A.

FGBU "NII glaznykh bolezneĭ" RAMN, Moskva

Galoian N.S.

FGBU "NII glaznykh bolezneĭ" RAMN, Moskva

Loginova A.N.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Chukhrova A.L.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Stargardt's disease and abiotrophy of Franceschetti (fundus flavimaculatus): pathogenetic, clinical, and molecular genetic characteristics

Authors:

Bondarenko M.T., Zhorzholadze N.V., Sheremet N.L., Ronzina I.A., Galoian N.S., Loginova A.N., Chukhrova A.L., Poliakov A.V.

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Journal: Russian Annals of Ophthalmology. 2014;130(2): 72‑76

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STARGARDT'S DISEASE AND ABIOTROPHY OF FRANCESCHETTI (FUNDUS FLAVIMACULATUS): PATHOGENETIC, CLINICAL, AND MOLECULAR GENETIC CHARACTERISTICS
STARGARDT'S DISEASE AND ABIOTROPHY OF FRANCESCHETTI (FUNDUS FLAVIMACULATUS): PATHOGENETIC, CLINICAL, AND MOLECULAR GENETIC CHARACTERISTICS

To cite this article:

Bondarenko MT, Zhorzholadze NV, Bondarenko MT, et al. . Stargardt's disease and abiotrophy of Franceschetti (fundus flavimaculatus): pathogenetic, clinical, and molecular genetic characteristics. Russian Annals of Ophthalmology. 2014;130(2):72‑76. (In Russ.)

Подписка 2026 Вестник офтальмологии (Russian Annals of Ophthalmology)
 
МСФ на ЯМ
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Abstract:

The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and molecular genetic characteristics are covered. Clinical and genetic classifications of the diseases are provided.

Keywords:

Stargardt's disease
Stargardt's disease
abiotrophy of Franceschetti
abiotrophy of Franceschetti
fundus flavimaculatus
fundus flavimaculatus
ABCA4 gene
ABCA4 gene

Authors:

Bondarenko M.T.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN

Zhorzholadze N.V.

FGBU "NII glaznykh bolezneĭ" RAMN

Sheremet N.L.

FGBU "NII glaznykh bolezneĭ" RAMN

Ronzina I.A.

FGBU "NII glaznykh bolezneĭ" RAMN, Moskva

Galoian N.S.

FGBU "NII glaznykh bolezneĭ" RAMN, Moskva

Loginova A.N.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Chukhrova A.L.

FGBU "Mediko-geneticheskiĭ nauchnyĭ tsentr" RAMN, Moskva

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

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References:

  1. Blacharski P.A. Fundus Flavimaculatus. Retinal dystrophies and degenerations. NY: Raven Press 1988; 135-139.
  2. Stargardt K. Über familiäre, progressive Degeneration in der Maculagegend des Auges. 1909. Graefes. Arch. Clin. Exp. Ophtalmol 1909; 71: 534-550.
  3. Franceschetti A. A special form of tapetoretinal degeneration: fundus flavimaculatus. Tran. Am. Acad. Ophthalmol. Otolaryngol 1965; 69: 1048-1053.
  4. Hadden O.B., Gass J.D. Fundus flavimaculatus and Stargardt's disease. Am. J. Ophthalmol 1976; 82 (4): 527-539.
  5. Irvine A.R., Wergeland F.L. Stargardt`s hereditary progressive macular degeneration. Br. J. Ophthalmol 1972; 56 (11): 817-826.
  6. Krill A.E., Deutman A.F. The various categories of juvenile macular degeneration. Trans. Am. Ophthalmol. Soc 1972; 70: 220-245.
  7. Noble K.G., Carr R.E. Stargardt's disease and fundus flavimaculatus. Arch. Ophthalmol 1979; 97 (7): 1281-1285.
  8. Aaberg T.M. Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. Trans. Am. Ophthalmol. Soc 1986; 84: 453-487.
  9. http://omim.org, Online Database.
  10. Eroshevskiy T.I., Bochkareva A.A. Glaznye bolezni Eye diseases . Moscow; 1983.
  11. Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., Dean M. Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet 1999; 64 (2): 422-434.
  12. Itabashi R., Katsumi O., Mehta M. C., Wajima R., Tamai M., Hirose T. Stargardt's disease/fundus flavimaculatus: psychophysical and electrophysiologic results. Graefes. Arch. Clin. Exp. Ophthalmol 1993; 231 (10): 555-562.
  13. Fish G., Grey R., Sehmi K.S., Bird A.C. The dark choroid in posterior retinal dystrophies. Br. J. Ophthalmol 1981; 65 (5): 359-363.
  14. Rosehr K. Ueber dem weiteren Verlauf der von Stargardt und Behr beschriebenen familiaren Degeneration der Makula. Klin. Monatsbl. Augenheilkd 1954; 124: 171.
  15. Fishman G.A. Fundus flavimaculatus. A clinical classification. Arch. Ophthalmol 1976; 94 (12): 2061-2067.
  16. Westeneng-van Haaften S.C., Boon C.J., Cremers F.P., Hoefsloot L.H., den Hollander A.I., Hoyng C.B. Clinical and Genetic Characteristics of Late-onset Stargardt's Disease. Ophthalmology 2012; 119 (6): 1199-1210.
  17. Armstrong J.D., Meyer D., Xu S., Elfervig J.L. Long-term follow-up of Stargardt's disease and fundus flavimaculatus Ophthalmology 1998; 105 (3): 448-458.
  18. Bonnin M.P. The choroidal silence sign in central tapetoretinal degenerations examined by fluorescein. Bull. Soc. Ophtalmol. Fr 1971; 71: 348-351.
  19. Jayasundera T., Rhoades W., Branham K., Niziol L.M., Musch D.M., Heckenlively J.R. Peripapillary Dark Choroid Ring as a Helpful Diagnostic Sign in Advanced Stargardt Disease. Am. J. Ophthalmol 2010; 149: 656-660.
  20. Klien B.A., Krill A.E. Fundus flavimaculatus. Clinical, functional and histopathologic observations. Am. J. Ophthalmol 1967; 64 (1): 3-23.
  21. Koen S.-Iv., Kvintel' G. Flyuorestsentnaya angiografiya v diagnostike patologii glaznogo dna Fluorescent angiography in the diagnosis of ocular fundus pathology . Moscow; 2005.
  22. Vollmer L.A., Shechtman D.L., Woods A.D., Pizzimenti J.J. Use of multifocal ERG and OCT for diagnosing Stargardt's disease. Clin. Exp. Optom 2011; 94 (3): 309-313.
  23. Zhang K., Yeon H., Han M., Donodo L. Molecular genetics of macular dystrophies. Br. J. Ophthalmol 1996; 80: 1018-1022.
  24. Chen Y., Roorda A., Duncan J.L. Advances in imaging of Stargardt disease. Adv. Exp. Med. Biol 2010; 664: 333-340.
  25. Gerth C., Zawadzki R.J., Choi S.S., Keltner J.L., Park S.S., Werner J.S. Visualization of lipofuscin accumulation in Stargardt macular dystrophy by high-resolution Fourier-domain optical coherence tomography. Arch. Ophthalmol 2007; 125 (4): 575.
  26. Berisha F., Feke G.T., Aliyeva S., Hirai K., Pfeiffer N., Hirose T. Evaluation of macular abnormalities in Stargardt's disease using optical coherence tomography and scanning laser ophthalmoscope microperimetry. Graefes. Arch. Clin. Exp. Ophthalmol 2009; 247 (3): 303-309.
  27. Schuman S.G., Hertzmark E., Fujimoto J.G., Schuman J.S. Wavelength independence and interdevice variability of optical coherence tomography. Ophthalmic. Surg. Lasers Imaging 2004; 35 (4): 316-320.
  28. Francois J., De Rouck A., Fernandez-Sasso D. Electroretinography and electrooculography in desiases of posterior pole of the eye. J. Adv. Ophthalmol 1969; 21: 132-163.
  29. Oh K.T., Weleber R.G., Oh D.M., Billingslea A.M., Rosenow J., Stone E.M. Clinical phenotype as a prognostic factor in Stargardt disease. Retina 2004; 24 (2): 254-262.
  30. Seiple W.H., Siegel I.M., Carr R.E., Mayron C. Evaluating macular functions using the focal ERG. J. Invest. Ophthalmol 1986; 27 (6): 1123-1130.
  31. Shamshinova A.M. Lokal'naya elektroretinogramma v klinike glaznykh bolezney: Dis. d-ra med. nauk Local electroretinogram in Clinic of eye diseases: Dr. Diss. (Med. Sci.) . Moscow; 1989.
  32. Shcherbatova O.I. Topograficheskaya elektroretinografiya i ee klinicheskoe znachenie: Dis. d-ra med. nauk Topographic electroretinography and its clinical significance: Dr. Diss. (Med. Sci.) . Moscow; 1989.
  33. Biersdorf W.R. The clinical utility of the foveal electroretinogram: a review - 1990. Doc. Ophthalmol 1990; 73: 313-325.
  34. Hood D.C. Assessing retinal function with the multifocal technique. Prog. Retinal. Eye Res 2000; 19: 607-646.
  35. Palmovski A.M. Multifocal stimulation techniques in ophthalmology - current knowledge and perspectives. Strabismus 2003; 11 (4): 229-237.
  36. Fishman G.A., Farber M., Patel B.S., Derlacki D.J. Visual acuity loss in patients with Stargardt's macular dystrophy. Ophthalmology 1987; 94 (7): 809-814.
  37. Deutman A.F. The hereditary dystrophies of the posterior pole of the eye. Springfield: C.C. Thomas 1971; 457.
  38. Kretchmann U., Seeliger M.W., Ruether K., Usui T., Apfelstedt-Sylla E., Zrenner E. Multifocal electroretinography in patients with Stargardt's macular dystrophy. Br. J. Ophthalmol 1998; 82 (3): 267-275.
  39. Rudolph G., Kalpadakis P., Ehrt O., Berninger T., Kampik A. SLO-mfERG-Kampimetrie und SLO-Mikroperimetrie bei Morbus Stargardt. Ophthalmologe 2003; 100 (9): 720-726.
  40. Zol'nikova I.V., Karlova I.Z., Rogatina E.V. Macular and multifocal electroretinography in the diagnosis of Stargardt dystrophy. Vestnik oftal'mologii. 2009; 1: 41-46. (In Russ.)
  41. Shamshinova A.M., ed. Nasledstvennye i vrozhdennye zabolevaniya setchatki i zritel'nogo nerva Inheritance and congenital diseases of the retina and optic nerve . Moscow: Meditsina Publ.; 2001. 528 p.
  42. Merin S. Inherited macular disease. Retinal dystrophies and degenerations. Ed. D.A. Newsome. NY: Raven Press 1993; 137-175.
  43. Boon C.J.F., von Schooneveld M.J., den Hollander A.I., van Lith-Verhoeven J.J.C., Zonneveld-Vrieling M.N., Theelen T., Cremrs P.M., Hoyng C.B., Joroen B. Mutations in the perepherin/RDS gene are an important csuse of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br. J. Ophthalmol 2007; 91: 1504-1511.
  44. Shroyer N.F., Lewis R.A., Yatsenko A.N., Wensel T.G., Lupski J.R. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum. Mol. Genet 2001; 10 (23): 2671-2678.
  45. 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., Lupski J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet 1997; 15 (3): 236-246.
  46. Molday R.S., Zhong M., Quazi F. The role of photoreceptor ABC tranporter ABCA4 in lipid transport and Stargardt macular degeneration. Biochim. Biophys. Acta 2009; 1791 (7): 573-583.
  47. Sun H., Molday R.S., Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J. Biol. Chem 1999; 274 (12): 8269-8281.
  48. Weng J., Mata N.L., Azarian S.M., Tzekov R.T., Birch D.G., Travis G.H. 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 (1): 13-23.
  49. Jin J., Jones G.J., Cornwall M.C. Movement of retinal along cone and rod photoreceptors. Vis. Neurosci 1994; 11 (2): 389-399.
  50. Mata N.L., Weng J., Travis G.H. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc. Natl. Acad. Sci. USA 2000; 97 (13): 7154-7159.
  51. Eldred G.E., Lasky M.R. Retinal age pigments generated by self-assembling lysosomotropic detergents. Nature 1993; 361 (6414): 724-726.
  52. Parish C.A., Hashimoto M., Nakanishi K., Dillon J., Sparrow J. Isolation and one-step preparation of A2E and iso-A2E, fluorophores from human retinal pigment epithelium. Proc. Natl. Acad. Sci. USA 1998; 95 (25): 14609-14613.
  53. Klevering B.J. Retinal dystrophies caused by mutations in the ABCA4 gene: An evaluation of the clinical spectrum. Diss. doctr. med. nauk 2004; 183.
  54. Sparrow J.R., Nakanishi K., Parish C.A. The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells. Invest. Ophthalmol. Vis. Sci 2000; 41 (7): 1981-1989.
  55. Kong J., Kim S.R., Binley K., Pata I., Doi K., Mannik J., Zernant-Rajang J., Kan O., Iqball S., Naylor S., Sparrow J.R., Gouras P., Allikmets R. Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Ther 2008; 15 (19): 1311-1320.
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