Research Articles

A research study of Stargardt disease (STGD1) highlights inter-sibling variability between genotype-phenotype

Research at the Radboud University Medical Centre in Nijmegen, the Netherlands, has reported a phenotypic discordance between siblings with STGD1 having the same ABCA4 variants.  While fundus autofluorescence images appear to compare phenotypic outcomes between siblings, the study identifies substantially different functional outcomes. The research study may throw up significant challenges for clinical management and […]

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A nation-wide study of inherited retinal disease reports the largest IRD cohort published in Israel

Research on a nation-wide study conducted in Israel has collated the largest cohort of inherited retinal disease (IRDs) to date. The Israel inherited retinal disease consortium (IIRDC) has outlined a genetic analysis of IRD patients showing that retinitis pigmentosa (43%) was the most common phenotype, followed by Stargardt’s disease, cone/cone–rod dystrophy and Usher syndrome (8% […]

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An AAO editorial article in the journal Ophthalmology provides a field guide to harness artificial intelligence

An editorial article published in Ophthalmology (AAO) outlines a useful guide for the deciphering of studies in artificial intelligence (AI)(2019 Nov;126(11):1475-1479). In an AAO opinion piece it has been observed that a significant volume of research articles on AI has recently flooded the medical literature, with varying content. To assist readers on assessing the varying […]

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