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

<div>Ultra-wide-field confocal scanning laser ophthalmoscopy (a, b) showing significant macular atrophy with diffuse, fine, yellow flecks bilaterally, as compared to a normal fundus (e); fundus autofluorescence (c, d) demonstrating bull’s eye maculopathy and hyperautofluorescent perifoveal rings bilaterally.</div>

Case Reports in Genetics

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Figure 1

Figure 1: A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy 