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Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects |
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| Authors: | Adva Kimchi Samer Khateb Rong Wen Ziqiang Guan Alexey Obolensky Avigail Beryozkin Shoshi Kurtzman Anat Blumenfeld Eran Pras Samuel G. Jacobson Tamar Ben-Yosef Hadas Newman Dror Sharon Eyal Banin |
| Affiliation: | 1. Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;2. Bascom Palmer Eye Institute, University of Miami, Miami, Florida;3. Duke University Medical Center, Durham, North Carolina;4. Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel;5. Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel;6. Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania;7. The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel;8. Department of Ophthalmology, Sourasky Medical Center, Tel-Aviv, Israel |
| Abstract: | |
| Keywords: | AD autosomal dominant AJ Ashkenazi Jewish AR autosomal recessive BCVA best-corrected visual acuity BSP bone spicule EOG electro-oculography ERG electroretinography FA fluorescein angiography FAF fundus autofluorescence FC finger counting FFERG full-field electroretinography HM hand movement IRD inherited retinal degeneration LP light perception MAF minor allele frequency male germ cell-associated kinase NLP no light perception ONL outer nuclear layer RP retinitis pigmentosa RPE retinal pigment epithelium VA visual acuity VF visual field WES whole exome sequencing XL X-linked |
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