Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation

Author:

Khan Arif O.123,Patel Nisha3,Ghazi Nicola G.14,Alzahrani Shahad S.1,Arold Stefan T.5,Alkuraya Fowzan S.367

Affiliation:

1. Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates

2. Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western University, Cleveland, Ohio, USA

3. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

4. Department of Ophthalmology, Lebanese American University, Lebanese American University Medical Center-Rizk Hospital, Beirut, Lebanon

5. Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia

6. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

7. Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia

Funder

King Abdulaziz City for Science and Technology

King Abdullah University of Science and Technology

King Salman Center for Disability Research

Saudi Human Genome Program

Publisher

Informa UK Limited

Subject

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

Cited by 8 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. Bilateral Congenital Macular Coloboma: Section A Case Report;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2023

2. Myopia prevalence and risk factors among medical trainees in Lebanon;Saudi Journal of Ophthalmology;2023

3. Intercalary membrane break and detachment causes intrachoroidal cavitation in macular coloboma;International Ophthalmology;2022-03-31

4. Congenital macular scars in siblings from CLDN19 mutations;Journal of American Association for Pediatric Ophthalmology and Strabismus;2021-10

5. A Systematic Review of the Clinical Manifestations and Diagnostic Methods for Macular Coloboma;Current Eye Research;2021-01-22

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