Rare variant reveals new hereditary retinal disease that can first impair night vision

An international team of researchers led by the University Hospital and University of Bonn, as well as the universities of Edinburgh, Basel and Pennsylvania, has identified a previously unrecognized form of inherited retinal degeneration caused by a specific variant in the EFEMP1 gene. The disease primarily affects the peripheral retina and the rod photoreceptors responsible for vision in dim light and darkness. Importantly, rod function may already be severely impaired while the retina still appears largely normal on clinical examination. The study results have now been published in the journal JAMA Ophthalmology.

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