German study links gene to night vision loss
A recent study from the University Hospital of Germany in Bonn has revealed that an previously unknown type of inherited retinal disease can affect night vision before clear retinal damage occurs, with the ability to see details remaining good in the central visual field. The disease is associated with a mutation in the "EFEMP1" gene and affects the outer regions of the retina and light-sensitive cells responsible for vision in low light conditions. Its early signs include difficulty seeing in the dark and a gradual decline in peripheral vision, even though visual acuity remains normal initially and routine examinations may appear normal. The research showed that the genetic change "p.Arg140Trp" causes disturbances in cellular functions before any detectable damage appears in imaging, suggesting that genetic testing could help diagnose previously unknown hereditary cases that cause this form of retinal disease.
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