Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration-Reference-Cited by-同舟云学术

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Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration

Published:2019-07-08 Issue:3 Volume:139 Page:171-184
ISSN:0012-4486
Container-title:Documenta Ophthalmologica
language:en
Short-container-title:Doc Ophthalmol

Author:

Tsunoda Kazushige,Fujinami Kaoru,Yoshitake Kazutoshi,Iwata Takeshi

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

National Hospital Organization Network Research Fund

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Link

http://link.springer.com/content/pdf/10.1007/s10633-019-09705-7.pdf

Reference51 articles.

1. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP (1999) Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet 22(2):188–191. https://doi.org/10.1038/9707

2. Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ (1997) Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet 17(2):198–200. https://doi.org/10.1038/ng1097-198

3. Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T, Macdonald IM, Sieving PA, Hejtmancik JF, Riazuddin S (2011) Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Br J Ophthalmol 95(7):1019–1024. https://doi.org/10.1136/bjo.2010.189076

4. Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T (2011) Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Ophthalmology 118(5):888–894. https://doi.org/10.1016/j.ophtha.2010.09.005

5. Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI (2012) A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. Ophthalmology 119(9):1899–1906. https://doi.org/10.1016/j.ophtha.2012.02.037

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