Publications by authors named "Yahya Alswaiti"
Purpose: To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.
Design: Multicenter international retrospective cohort study.
Methods: Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants.
Article Synopsis
- The study investigates the impact of a specific noncoding variant, c.859-25A>G, found in the ABCA4 gene, on retinal diseases like Stargardt disease (STGD) and cone-rod dystrophy (CRD) in Palestinian individuals.
- Researchers used sequencing, splice assays, and clinical assessments to understand how this variant affects mRNA splicing and the resulting eye health.
- The findings indicate that c.859-25A>G causes significant splicing defects leading to severe retinal conditions, making it a common genetic variant linked to inherited retinal diseases in the West Bank region.
Background: Retinitis pigmentosa (RP) is a heterogeneous group of inherited ocular diseases that result in progressive retinal degeneration. This study aims to describe different Swept-source Optical Coherence Tomographic (SS-OCT) changes in Palestinian RP patients and to explore possible correlations with Visual Acuity (VA).
Methods: A cross-sectional observational study was conducted on Retinitis Pigmentosa patients diagnosed with RP in a tertiary eye hospital.
Article Synopsis
- The study addresses the challenge of missing heritability in ABCA4-associated Stargardt disease (STGD1) by analyzing genomic variations in 1054 probands.
- Using a cost-effective sequencing method, researchers identified known and novel intronic variants and structural variants, leading to insights about potential causes of the disease.
- The findings revealed that 25% of biallelic STGD1 cases had identifiable genetic causes, demonstrating a model that could aid future research on other inherited diseases.
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Invest Ophthalmol Vis Sci
February 2018
Purpose: Usher syndrome (USH) is the most common cause for deaf-blindness. It is genetically and clinically heterogeneous and prevalent in populations with high consanguinity rate. We aim to characterize the set of genes and mutations that cause USH in the Israeli and Palestinian populations.
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