Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
JAMA Ophthalmol
; 142(7): 609-616, 2024 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-38753338
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, andParticipants:
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 andMeasures:
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 12400 individuals, followed by cone-rod dystrophy (approximately 114â¯000), Stargardt disease (approximately 116â¯000), Usher syndrome (approximately 116,000), and congenital stationary night blindness (approximately 118â¯000). The prevalence of all IRDs combined was 11043 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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Retinianas
/
Eletrorretinografia
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article