Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population

Sapir Shalom, Tamar Ben-Yosef, Ifat Sher, Amir Zag, Ygal Rotenstreich, Tomer Poleg, Ohad S. Birk, Libe Gradstein, Miriam Ehrenberg, Iris Deitch, Eedy Mezer, Idan Hecht, Eran Pras, Dan Ramon, Samer Khateb, Dinah Zur, Hadas Newman, Rawan Kharouba, Nitza Goldenberg-Cohen, Rina LeibuShiri Soudry, Ido Perlman, Eyal Banin, Dror Sharon

Research output: Contribution to journalArticlepeer-review


Importance: Data regarding the prevalence of various inherited retinal diseases (IRDs) are limited and vary across populations; moreover, nationwide prevalence studies may be limited to a specific IRD phenotype, potentially leading to inaccurate prevalence estimations. Therefore, nationwide prevalence data are needed. Objective: To determine the prevalence of 67 IRD phenotypes in the Israeli population. Design, Setting, and Participants: This cohort study collected nationwide data regarding the number of individuals affected with IRD phenotypes assessed in 10 clinical and academic centers in Israel as part of the research activity of the Israeli inherited retinal disease consortium. Data were collected in May 2023 on 9396 individuals residing in Israel who were diagnosed by an ophthalmologist with an IRD using either electroretinography or retinal imaging where included. Individuals with retinal diseases known to have a nonmendelian basis or without a clear genetic basis and those who were reported as deceased at the time of data collection were excluded from this study. Main Outcomes and Measures: Prevalence of 67 IRD phenotypes. Results: Among the 9396 participants in our cohort, the most common IRD in Israel was retinitis pigmentosa with a disease prevalence of approximately 1:2400 individuals, followed by cone-rod dystrophy (approximately 1:14000), Stargardt disease (approximately 1:16000), Usher syndrome (approximately 1:16,000), and congenital stationary night blindness (approximately 1:18000). The prevalence of all IRDs combined was 1:1043 individuals. Conclusions and Relevance: The current study provides large prevalence dataset of 67 IRD phenotypes, some of which are extremely rare, with only a single identified case. This analysis highlights the potential importance of performing additional nationwide prevalence studies to potentially assist with determining the prevalence of IRDs worldwide.

Original languageEnglish
JournalJAMA Ophthalmology
StateAccepted/In press - 1 Jan 2024

ASJC Scopus subject areas

  • Ophthalmology


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