" /> Retinal Cone Dystrophy 3B - CISMeF





Preferred Label : Retinal Cone Dystrophy 3B;

NCIt synonyms : RCD3B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the KCNV2 gene, encoding potassium voltage-gated channel subfamily V member 2. It is characterized by photophobia, progressive loss of visual acuity and reduced color discrimination.;

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30/07/2025


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