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1.
Case Rep Ophthalmol ; 15(1): 602-606, 2024.
Article in English | MEDLINE | ID: mdl-39144649

ABSTRACT

Introduction: In this case study, we present the "Ballerina" sign as a potentially valuable clinical indicator for detecting posterior capsular rupture (PCR) during cataract surgery. The purpose of this study is to highlight the significance of PCR in the context of cataract surgery and introduce this novel sign. Case Presentation: During the cataract operation on a 70-year-old patient, we observed a spiraling fragment of the nucleus attached to a vitreous string. Subsequently, an anterior vitrectomy was successfully performed without further intraoperative complications, followed by the insertion of a 3-piece lens into the sulcus. Positive visual outcomes were observed during postoperative follow-up appointments at 1 day, 2 weeks, and 3 months. Conclusion: The documentation of the "Ballerina" sign in the medical literature is innovative, offering ophthalmic surgeons a valuable tool for early PCR detection during cataract surgeries.

2.
JAMA Ophthalmol ; 142(7): 609-616, 2024 Jul 01.
Article in English | 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, 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.


Subject(s)
Electroretinography , Retinal Diseases , Humans , Israel/epidemiology , Prevalence , Male , Female , Adult , Retinal Diseases/epidemiology , Retinal Diseases/genetics , Retinal Diseases/diagnosis , Middle Aged , Phenotype , Adolescent , Young Adult , Aged , Child , Eye Diseases, Hereditary/epidemiology , Eye Diseases, Hereditary/genetics , Child, Preschool
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