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Features from screening programme referrals pre and post pandemic

In this study the authors conducted an analysis of demographics, referral rates and prevalence of various ophthalmic assessments among children referred to an ophthalmologist through the UCI eye mobile programme. They further evaluated the influence of socio-economic factors and the...

Choroideremia in women

The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...

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...

Reproductive counselling for females with X-linked inherited retinal diseases

The authors report a survey-based study of 118 female patients who were genetically confirmed carriers or obligate carriers of an X-linked inherited retinal disease. The majority (66.9%) of these patients were carriers of choroideremia; other diagnoses included retinitis pigmentosa, X-linked...

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....