Significantly Worse Vision Found in Female Carriers of X-Linked RP & Choroideremia
Female single-copy carriers of X-linked inherited retinal diseases experience a range of retinal degeneration from almost normal to severe.
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Next-Generation Sequencing Unveils Genetic Insights in IRD
A recent study analyzed 191 patients with IRD using targeted next-generation sequencing (NGS), to identify 359 variants, including 44 novel ones, across 340 genes. Study findings were published online in Genes. The overall...
Read MoreSurvey Examines Mobility Aid Preferences in IRDs
A survey published in the British Journal of Visual Impairment that examined patients with IRD assessed the adoption and perceptions of mobility aids. The findings revealed a notable reliance on traditional aids like long canes,...
Read MoreProtecting Patients’ Privacy During Virtual Visits
The COVID-19 pandemic accelerated the adoption of virtual healthcare. Telemedicine provides a convenient way to receive health care services with flexibility and accessibility. Current literature on the use of teleophthalmology,...
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Ophthalmologist-Led Reanalysis of Exome Sequencing Data Improves IRD Diagnoses
Ophthalmologist-led reanalysis of exome sequencing data, which utilized bioinformatics, improved the diagnostic yield in inherited retinal diseases.
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