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Ophthalmic Genetics Volume 40, 2019 - Issue 1
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Case Reports

Macular degeneration as a common cause of visual loss in spinocerebellar ataxia type 1 (SCA1) patients

Koji M. NishiguchiDepartment of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, JapanORCID Iconhttp://orcid.org/0000-0001-5987-4421View further author information
ORCID Icon,
Masashi AokiDepartment of Neurology, Tohoku University Graduate School of Medicine, Sendai, JapanView further author information
,
Toru NakazawaDepartment of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, JapanView further author information
&
Toshiaki AbeDivision of Clinical Cell Therapy, Center for Translational and Advanced Animal Research, Tohoku University Graduate School of Medicine, Sendai, JapanCorrespondence[email protected]
View further author information
Pages 49-53 | Received 11 Aug 2018, Accepted 07 Jan 2019, Published online: 07 Feb 2019

References

  • Michalik A, Martin JJ, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet. 2004;12(1):2–15. doi:10.1038/sj.ejhg.5201108.
  • Abe T, Tsuda T, Yoshida M, Wada Y, Kano T, Itoyama Y, Tamai M. Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families. Arch Ophthalmol. 2000;118(10):1415–21.
  • Abe T, Abe K, Aoki M, Itoyama Y, Tamai M. Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene. Arch Ophthalmol. 1997;115(2):231–36.
  • Vaclavik V, Borruat FX, Ambresin A, Munier FL. Novel maculopathy in patients with spinocerebellar ataxia type 1 autofluorescence findings and functional characteristics. JAMA Ophthalmol. 2013;131(4):536–38. doi:10.1001/jamaophthalmol.2013.1127.
  • Lebranchu P, Le Meur G, Magot A, David A, Verny C, Weber M, Milea D. Maculopathy and spinocerebellar ataxia type 1: a new association? J Neuro-Ophthalmol. 2013;33(3):225–31. doi:10.1097/WNO.0b013e31828d4add.
  • Saito Y, Matsumura K, Shimizu S, Ichikawa Y, Ochiai K, Goto J, Tsuji S, Shimizu T. Pigmentary macular dystrophy in spinocerebellar ataxia type 1. J Neurol Neurosurg Psychiatry. 2006;77(11):1293. doi:10.1136/jnnp.2006.092676.
  • Thurtell MJ, Biousse V, Newman NJ. Rod-cone dystrophy in spinocerebellar ataxia type 1. Arch Ophthalmol. 2011;129(7):956–58. doi:10.1001/archophthalmol.2011.172.
  • Stricker S, Oberwahrenbrock T, Zimmermann H, Schroeter J, Endres M, Brandt AU, Paul F, Villoslada P. Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1. PLoS One. 2011;6(7):e23024. doi:10.1371/journal.pone.0023024.
  • Pula JH, Towle VL, Staszak VM, Cao D, Bernard JT, Gomez CM. Retinal nerve fibre layer and macular thinning in spinocerebellar ataxia and cerebellar multisystem atrophy. Neuro-Ophthalmology. 2011;35(3):108–14. doi:10.3109/01658107.2011.580898.
  • McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M. ISCEV Standard for full-field clinical electroretinography (2015 update). Documenta Ophthalmologica. 2015;130(1):1–12. doi:10.1007/s10633-014-9473-7.
  • Kameya T, Abe K, Aoki M, Sahara M, Tobita M, Konno H, Itoyama Y. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology, 1995;45(8):1587–94.
  • Onodera Y, Aoki M, Tsuda T, Kato H, Nagata T, Kameya T, Abe K, Itoyama Y. High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan. J Neurol Sci. 2000;178(2):153–58.
  • Corton M, Nishiguchi KM, Avila-Fernandez A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C, Stieger K. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. PLoS One. 2013; 8(6):e65574. doi:10.1371/journal.pone.0065574.
  • Inoue M, Himori N, Kunikata H, Takeshita T, Aizawa N, Shiga Y, Omodaka K, Nishiguchi KM, Takahashi H, Nakazawa T. The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy. Acta Ophthalmol (Copenh). 2016;94(7):e580–e585. doi:10.1111/aos.12999.
  • Miyake Y, Ichikawa K, Shiose Y, Kawase Y. Hereditary macular dystrophy without visible fundus abnormality. Am J Ophthalmol. 1989;108(3):292–99.

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