UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy-Reference-Cited by-同舟云学术

UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy

Published:2022-11-11 Issue:1 Volume:67 Page:38-42
ISSN:0021-5155
Container-title:Japanese Journal of Ophthalmology
language:en
Short-container-title:Jpn J Ophthalmol

Author:

Tsuneya Miki,Chen Lily Wei,Ono Takashi,Hashimoto Yumi,Kitamoto Kohdai,Taketani Yukako,Toyono Tetsuya,Aihara Makoto,Miyai Takashi

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10384-022-00951-y.pdf

Reference14 articles.

1. Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, et al. IC3D classification of corneal dystrophies—edition 2. Cornea. 2015;34:117–59. Erratum in: Cornea. 2015;34:e32.

2. Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, et al. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci. 2007;48:5007–12.

3. Evans CJ, Dudakova L, Skalicka P, Mahelkova G, Horinek A, Hardcastle AJ, et al. Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. BMC Ophthalmol. 2018;18:250.

4. Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, et al. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. PLoS ONE. 2010;5:e10760.

5. Kobayashi A, Fujiki K, Murakami A, Sugiyama K. In vivo laser confocal microscopy findings and mutational analysis for Schnyder’s crystalline corneal dystrophy. Ophthalmology. 2009;116:1029–37.e1.