Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants-Reference-Cited by-同舟云学术

Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants

Published:2017-12-08 Issue:2 Volume:39 Page:255-262
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kominami Azusa¹,Ueno Shinji¹,Kominami Taro¹,Nakanishi Ayami¹,Ito Yasuki¹,Fujinami Kaoru²,Tsunoda Kazushige²,Hayashi Takaaki³,Kikuchi Sachiko⁴,Kameya Shuhei⁴,Iwata Takeshi²,Terasaki Hiroko¹

Affiliation:

1. Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan

2. National Institute of Sensor Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

3. Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan

4. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan

Funder

Scientific Research C fund from Ministry of Education, Culture, Sports, Science and Technology of Japan.

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2017.1408846

Reference25 articles.

1. Miyake Y. 2006. Electrodiagonosis of Retinal Disease. Tokyo:Springer. 123–35.

2. The cone degenerations

3. Novel Recessive Cone-Rod Dystrophy Caused byPOC1BMutation

4. Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

5. Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy

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