Loading
Ocular Disorders and Treatments / Retinal Development and Disorders · Journal article
Human Genomics · August 11, 2026
Early or partial results. Treat as a signal, not a conclusion.
This is a retrospective descriptive cohort study of 232 patients with ocular genetic disorders evaluated at a single centre in the UAE between 2010 and 2023, identifying 186 genetic variants (65 novel) associated with syndromic and non-syndromic eye disease. The study provides population-specific epidemiologic data on the genetic basis of ocular disorders but lacks clinical outcome measures, a control group, or longitudinal follow-up, and therefore cannot support conclusions about prognosis, treatment efficacy, or causality.
Retrospective cohort study. 232 patients with ocular genetic disorders evaluated at Tawam Hospital, Al Ain, UAE; 79% with documented consanguinity.. Intervention: Genetic testing based on clinical phenotype and family history. n = 232. Tawam Hospital, Al Ain, United Arab Emirates.
232 patients with ocular disorders evaluated: 119 (51%) females and 113 (48.7%) males. 186 variants identified: 114 (61%) causing syndromic and 72 (39%) causing non-syndromic eye manifestations. 65 variants were novel, suggesting genetic uniqueness in the UAE population.
Safety was not reported in the material analysed. Check the source before drawing any conclusion about harm.
This study identifies the genetic spectrum of ocular disorders in a UAE population and highlights population-specific variants, which may inform local screening strategies and therapeutic priorities. However, the absence of clinical outcome data, control comparisons, or longitudinal follow-up limits its direct application to individual patient management or prognostication.
A retrospective cohort study describing genetic variants in ocular disorders without a comparator group, control arm, or quantified clinical outcomes; provides epidemiologic and descriptive data but lacks the design to support causal inference or clinical decision-making.
As stated by the source record.
Quoted from the source exactly as published.
This study identifies the genetic spectrum of ocular disorders in a UAE population and highlights population-specific variants, which may inform local screening strategies and therapeutic priorities. However, the absence of clinical outcome data, control comparisons, or longitudinal follow-up limits its direct application to individual patient management or prognostication.
Graded across the dimensions that decide whether you should act, each from what the source actually supports. There is no single score, and where a dimension was not assessed it says so.
Ocular disorders represent a significant public health concern with diverse manifestations that can lead to visual impairment and blindness. Understanding the genetic basis of ocular disorders in specific populations is essential for targeted therapeutic and preventive strategies. Studies on the epidemiology or mutation spectrum of eye disorders in the United Arab Emirates (UAE) are limited. To delineate the molecular spectrum of ocular disorders in the UAE, a retrospective chart review of patients with ocular disorders evaluated between January 2010 and January 2023 at Tawam Hospital, Al Ain was performed. Genetic testing was performed based on the patient's clinical phenotypes and family history. A total of 232 patients with eye disorders were evaluated, 119 (51%) females and 113 (48.7%) males. Consanguinity was documented in 184 patients (79%). A total of 186 variants were identified, causing syndromic (114; 61%) and non-syndromic (72; 39%) eye manifestations in our cohort. Interestingly, 65 variants were novel, suggesting uniqueness among the population studied. Such an extensive retrospective study that investigates the genetic etiologies of eye diseases provides valuable insights that will form the basis for selecting candidate genes for population-wide screening and targeted therapy priorities for the UAE population.
Taken from the source record, never inferred. Follow any of these and new work involving them reaches your briefing.