Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene-Reference-Cited by-同舟云学术

Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene

Published:2016-02-19 Issue:4 Volume:37 Page:424-426
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Lai Yu-Hung¹²,Capasso Jenina E.¹,Kaiser Richard³,Levin Alex V.¹⁴

Affiliation:

1. Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA

2. Department of Ophthalmology, Kaohsiung Medical University Hospital, and Department of Ophthalmology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan

3. Retina Service, Wills Eye Hospital, Philadelphia, Pennsylvania, USA

4. Thomas Jefferson University, Philadelphia, Pennsylvania, USA

Funder

The Robison D. Harley, MD Endowed Chair in Pediatric Ophthalmology and Ocular Genetics

Foerderer Fund

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.3109/13816810.2015.1092046

Reference18 articles.

1. Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene

2. Macular cysts in retinal dystrophy

3. Ciliopathies

4. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

5. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cystoid macular oedema without leakage in fluorescein angiography: a literature review;Eye;2022-09-10

2. Intraretinal Cystoid Spaces in Regression of Punctate Inner Choroidopathy Lesions;Ocular Immunology and Inflammation;2019-08-15

3. Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces;Ophthalmic Genetics;2019-05-04

4. Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene;Ophthalmic Genetics;2018-05-21

5. High-resolution Imaging in Male Germ Cell–Associated Kinase (MAK)-related Retinal Degeneration;American Journal of Ophthalmology;2018-01