A New Macular Dystrophy Secondary to a Novel Mutation in the Prominin 1 (Prom1) Gene
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.
Randhawa S, Sharma M. A NEW MACULAR DYSTROPHY SECONDARY TO A NOVEL MUTATION IN THE PROMININ 1 (PROM1) GENE. Retin Cases Brief Rep. 2017 Winter;11 Suppl 1:S62-S64. doi: 10.1097/ICB.0000000000000405. PubMed PMID: 27571428.