Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population

Abstract

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 1:14 000), Stargardt disease (approximately 1:16 000), Usher syndrome (approximately 1:16,000), and congenital stationary night blindness (approximately 1:18 000). 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.

Figure 1.. Ten Most Prevalent Inherited Retinal Disease (IRD) Phenotypes in the Israeli Population

Two values are depicted for each phenotype, representing the minimum and maximum prevalence as 1:X individuals. ACHM indicates achromatopsia; BBS, Bardet-Biedl syndrome; CD, cone dystrophy; CRD, cone-rod dystrophy; CSNB, congenital stationary night blindness; LCA, Leber congenital amaurosis; RP, retinitis pigmentosa (nonsyndromic); STGD, Stargardt disease; USH, Usher syndrome.

Figure 2.. Prevalence of Inherited Retinal Disease (IRD) Phenotypes in the Retinitis Pigmentosa and Allied Group

Two values are depicted for each phenotype, representing the minimum and maximum prevalence as 1:X individuals. ABL indicates abetalipoproteinemia; BBS, Bardet-Biedl syndrome; BCD, Bietti crystalline corneoretinal dystrophy; ESCS, enhanced S-cone syndrome; GFS, Goldmann-Favre syndrome; HS, Heimler syndrome; JBTS, Joubert syndrome; KSS, Kearns-Sayre syndrome; LCA, Leber congenital amaurosis; LORD, late-onset retinal degeneration; RP, retinitis pigmentosa; RPA, retinitis punctata albescens; RP-synd, RP, syndromic; SLSN, Senior-Loken syndrome; USH, Usher syndrome.

Figure 3.. Prevalence of Different Inherited Retinal Diseases (IRDs) Divided Into Four Groups

Two values are depicted for each phenotype, representing the minimum and maximum prevalence as 1:X individuals. ACHM indicates achromatopsia; ARB, autosomal recessive bestrophinopathy; AVMD, adult-onset vitelliform macular dystrophy; BCM, blue-cone monochromacy; BVMD, best vitelliform macular dystrophy; CACD, central areolar choroidal dystrophy; CD, cone dystrophy; CDSRR, cone dystrophy with supernormal rod electroretinography; CHM, choroideremia; CRD, cone-rod dystrophy; CSNB, congenital stationary night blindness; DHRD, Doyne honeycomb retinal degeneration; FA, fundus albipunctatus; GA, gyrate atrophy; HJMD, hypotrichosis and juvenile macular dystrophy; MD, macular dystrophy; NCMD, North Carolina macular dystrophy; PD, pattern dystrophy; PPCA, pigmented paravenous chorioretinal atrophy; SFD, Sorsby fundus dystrophy; SLS, Sjogren-Larsson syndrome; STGD, Stargardt disease.