Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.

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.

[VASCULAR OPHTHALMIC MANIFESTATIONS IN COVID-19 PATIENTS].

INTRODUCTION: Although COVID-19 is mainly a respiratory disease, recent evidence has emerged of vascular and procoagulant pathologies even in young and otherwise healthy individuals. Ophthalmic manifestations include, among others, visual impairment due to arteritic and venous retinal obstructions, which at times precedes other aspects of the disease. We present two atypical cases of internal carotid dissection (ICAD) and review the different ocular symptoms of ICAD and its association with the COVID-19 pandemic. BACKGROUND: A 43-year-old otherwise healthy man was referred to the Emergency Department with a headache and monocular blurring of vision. A recent fever (2 weeks prior) was noted on anamnesis, in light of absence of available positive PCR test during the illness period, clinical suspicion of COVID-19 was assumed. An initial ophthalmic evaluation found a mild optic nerve function impairment with preserved visual acuity. Computed tomography (CT) showed sinusitis, and an initial diagnosis was made of mild optic neuropathy secondary to sphenoid sinusitis. A few hours after admission, the patient reported deterioration of symptoms and examination revealed no light perception in his right eye and pale edematous optic nerve. Urgent magnetic resonance angiography (MRA) demonstrated right ICAD with no additional findings. The second patient, a 43-year-old man developed an acute event of strabismus, left limb paralysis, and speech difficulties while on a hospital visit for his son. The patient underwent CT of the brain which demonstrated extensive infarction following the distribution of his right cerebral artery. Continued investigation using computed tomography angiography (CTA) demonstrated a dissection of the right internal carotid artery. The patient was positive for COVID-19. DISCUSSION: In this review, we discuss 2 cases of carotid artery dissection presenting with an acute ocular complaint in two otherwise healthy young individuals. Events were suspected to have been provoked by COVID-19 infection. The pathogenesis and mechanisms behind COVID-19 induced coagulopathy are not clear, and several mechanisms have been proposed including endothelial damage and dysfunction. The virus is thought to enter endothelial cells and lead to a pathological procoagulant state. Awareness should be drawn to uncommon signs especially in young adults. Clotting issues can arise and should be treated quickly as they might be life and vision threatening.

Number of stentriever passes and outcome after thrombectomy in stroke.

BACKGROUND AND PURPOSES: Stroke secondary to emergent large vessel occlusions (ELVO) involving the anterior circulation can be treated with intravenous tissue plasminogen activator (IV-tPA) or thrombectomy. Data regarding the influence of the number of stentriever passes needed for vessel recanalization on outcome is lacking. PATIENTS AND METHODS: We prospectively accrued data on consecutive patients with ELVO that were treated with thrombectomy. Procedural details including the number of stentriever passes needed to achieve vessel recanalization and clot length were collected. Functional outcome was determined with the modified Rankin Scale (mRS) at 90 days post stroke with mRS ≤ 2 considered favorable outcome. Data on demographics, risk factors, stroke severity, survival, and occurrence of symptomatic intracranial hemorrhage (sICH) was also collected. RESULTS: On univariate analysis more than one pass needed to achieve recanalization impacted survival and functional outcome after 90 days as did age, stroke severity and collateral and reperfusion status. On multivariate logistic regression the number of passes needed to achieve revascularization (OR: 10.0, 95% CI: 2.28-43.94, P = 0.002), age (OR: 0.90, 95% CI: 0.84-0.96, P = 0.001) and collateral status (OR: 7.90, 95% CI: 1.87-33.35, P = 0.005) remained significant modifiers for favorable outcome. On logistic regression the only variable associated with the need to perform more than a single stentriever pass was time from symptom onset to target vessel recanalization (OR: 1.007, 95% CI: 1.002-1.012). CONCLUSIONS: The number of passes needed to achieve target vessel recanalization modifies outcome after thrombectomy and successful recanalization after a single pass is associated with favorable outcome.