Publications by authors named "I Perlman"
Article Synopsis
- The study aimed to gather nationwide data on the prevalence of 67 inherited retinal diseases (IRDs) in the Israeli population, as existing prevalence information is limited and can vary significantly.
- Researchers collected data from 9,396 individuals diagnosed with IRDs through 10 clinical centers in Israel during May 2023, using specific diagnostic methods to ensure accuracy.
- Results revealed that the most common IRD was retinitis pigmentosa (approx. 1 in 2,400), followed by other conditions like cone-rod dystrophy and Stargardt disease, with an overall prevalence of IRDs at about 1 in 1,043 individuals.
Article Synopsis
- The study reviews disease-causing mutations in the BEST1 gene, correlates genotypes with phenotypes, and estimates the prevalence of Best disease in the Israeli population.
- Over 134 patients from nine medical centers were analyzed, revealing a prevalence of 1 in 127,000, with higher rates among Arab Muslims compared to Jews.
- Genetic testing is essential for diagnosing Best disease, as many mutations lead to autosomal-dominant inheritance and are concentrated in critical areas of the BEST1 protein that affect its normal function.*
Purpose: To describe ocular findings in individuals with primary hyperoxaluria type 1 (PH1), focusing on the correlations between retinal anatomy and retinal function. To characterize the retinal alterations that occur at different disease stages by evaluating individuals with diverse degrees of renal impairment associated with PH1.
Design: A cross-sectional study.