A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy

<div>Full-field electroretinography (ERG) demonstrating a severely diminished response to scotopic flash, photopic flash, and 30 Hz flicker stimulation conditions (a), as compared to a normal ERG response in an age-matched control (b), with normative data for amplitude and latencies of age-matched controls represented by red boxes on each panel.</div>

Case Reports in Genetics

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Figure 3

Figure 3: A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy 