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Ethnic disparities in diagnostic sequencing yield
The authors present a systematic review and meta-analysis of the diagnostic yield of next generation sequencing (NGS) for inherited retinal diseases and compare yield from studies performed primarily on patients of European descent from those primarily of East Asian descent....
Characteristics of central serous chorioretinopathy by age
The authors present a cohort study of 326 patients with simple central serous chorioretinopathy (CSC) according to the classification system laid down by Chhablani, et al. in 2020. Genotyping for two variants of the CFH gene rs800292 and rs1329428 was...
Transcriptomic and regulatory gene associations in open angle glaucoma
The authors report a study utilising a publicly available whole exome sequencing dataset of 28 patients with primary open angle glaucoma (POAG) and seven healthy control patients, and a transcriptomic dataset from the trabecular meshwork of four POAG patients and...
