Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Autor: Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkuraya H; Global Eye Care, Specialized Medical Center Hospital, Riyadh, Saudi Arabia., Alzahrani SS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Nowailaty SR; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Seidahmed MZ; Pediatric Department, Security Forces Hospital, Riyadh, Saudi Arabia., Alhemidan A; Department of Ophthalmology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Ben-Omran T; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Ghazi NG; Department of Ophthalmology, Lebanese American University, Lebanese American University Medical Center Rizk Hospital, Beirut, Lebanon., Al-Aqeel A; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Al-Owain M; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzaidan HI; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih E; Section of Medical Genetics, Department of Pediatric Subspecialties, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Kurdi W; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rahbeeni Z; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western University, Cleveland, Ohio., Aldahmesh MA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

Publikováno v: Clinical genetics [Clin Genet] 2018 Dec; Vol. 94 (6), pp. 554-563. Date of Electronic Publication: 2018 Sep 03.

Genomic profile of diabetic retinopathy in a north indian cohort.

Autor: Sikka, Ruhi, Raina, Priyanka, Soni, Rhibhu, Gupta, Himanshu, Bhanwer, A. J. S.

Publikováno v: Molecular Biology Reports; Dec2023, Vol. 50 Issue 12, p9769-9778, 10p

Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.

Autor: Kolawole, Olubayo U., Gregory-Evans, Cheryl Y., Bikoo, Riyaz, Huang, Albert Z., Gregory-Evans, Kevin

Publikováno v: Molecular Vision; 2023, Vol. 29, p329-337, 9p

Spectrum, frequency, and genotype--phenotype of mutations in SPATA7.

Autor: Xueshan Xiao, Wenmin Sun, Shiqiang Li, Xiaoyun Jia, Qingjiong Zhang

Publikováno v: Molecular Vision; 2019, Vol. 25, p821-833, 13p