Article
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
BMC genomics - 16 May 2024
Al-Saei Omayma, Malka Samantha, Owen Nicholas, Aliyev Elbay, Vempalli Fazulur Rehaman, Ocieczek Paulina, Al-Khathlan Bashayer, Fakhro Khalid, Moosajee Mariya
Abstract excerpt
Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis and unlocking the potential for optimising clinical management. In this study, we investigated 86 CG cases from 78 unrelated families of diverse ethnic backgrounds, recruited into...
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