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Genetic Disease Affects Night Vision Before Retina Damage

Genetic Disease Affects Night Vision Before Retina Damage

A recent study confirmed that an previously unknown hereditary disease affects night vision before evident retinal damage occurs, and is linked to a change in the EFEMP1 gene. The disease causes difficulty seeing in darkness and a gradual decline in peripheral vision, while the central area remains relatively functional initially. Standard retinal examinations appear normal, which may hinder early detection. It was observed that the genetic change (p.Arg140Trp) causes damage to the retinal periphery, while the central region often remains intact. This discovery may help explain mysterious hereditary cases.

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