A New Macular Dystrophy Secondary to a Novel Mutation in the Prominin 1 (Prom1) Gene

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PURPOSE: To report a case of a new macular dystrophy caused by a novel mutation in the PROM1 gene.

METHODS: History and clinical examination, fluorescein angiography, optical coherence tomography, autofluorescence, electrophysiology, and genetics.

RESULTS: We report a case of a 51-year-old man with progressive central visual loss in both his eyes. On fundus examination and imaging, there were asymmetric atrophic macular lesions in both his eyes. Electrophysiology revealed a bilateral macular atrophy; genetic testing revealed a novel PROM1 mutation as the probable cause.

CONCLUSION: A novel PROM1 mutation as the cause of a new bilateral macular atrophy is revealed.