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RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Aleman Tomas S, Uyhazi Katherine E, Serrano Leona W, Vasireddy Vidyullatha, Bowman Scott J, Ammar Michael J et al.
Invest Ophthalmol Vis SciOct 20180 citationsCase Series
RDH12 mutations cause severe pediatric retinal degeneration, primarily affecting central vision and cones, yet rods are relatively spared, suggesting potential gene therapy targets in preserved peripheral retina.