A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function-Reference-Cited by-同舟云学术

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A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function

Published:2023-05-25 Issue:1 Volume:147 Page:59-70
ISSN:0012-4486
Container-title:Documenta Ophthalmologica
language:en
Short-container-title:Doc Ophthalmol

Author:

Hayashi Takaaki^ORCID,Mizobuchi Kei^ORCID,Kameya Shuhei,Ueno Shinji,Matsuura Tomokazu,Nakano Tadashi

Funder

Grants-in-Aid for Scientific Research

Alcon

AMO

Daiichi-Sankyo

Chugai Pharmaceutical

Mitsubishi Tanabe Pharma Corporation

Senju

Bayer

Ritz medical

Uni-hite

Kuribara

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Link

https://link.springer.com/content/pdf/10.1007/s10633-023-09936-9.pdf

Reference28 articles.

1. Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP (2014) Causes and consequences of inherited cone disorders. Prog Retin Eye Res 42:1–26. https://doi.org/10.1016/j.preteyeres.2014.05.001

2. Tsang SH, Sharma T (2018) Progressive cone dystrophy and cone-rod dystrophy (XL, AD, and AR). In: Tsang SH, Sharma T (eds) Atlas of Inherited retinal diseases. Advances in experimental medicine and biology. Springer, Cham, Switzerland, pp 53–60

3. Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH et al (2014) Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am J Hum Genet 95:131–142. https://doi.org/10.1016/j.ajhg.2014.06.012

4. Durlu YK, Koroglu C, Tolun A (2014) Novel recessive cone-rod dystrophy caused by POC1B mutation. JAMA Ophthalmol 132:1185–1191. https://doi.org/10.1001/jamaophthalmol.2014.1658

5. Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A et al (2014) Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat 35:1153–1162. https://doi.org/10.1002/humu.22618

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