title: A NEW MACULAR DYSTROPHY SECONDARY TO A NOVEL MUTATION IN THE PROMININ 1 (PROM1) GENE.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  A novel PROM1 mutation as the cause of a new bilateral macular atrophy is revealed.
authors: *Associated Retinal Consultants, PC, Royal Oak, MI, Department of Ophthalmology, Oakland University William Beaumont School of Medicine, Michigan; and †Department of Ophthalmology, The Permanente Medical Group, Roseville, California.
authors: Sandeep
authors: S
authors: Randhawa
authors: Mithlesh
authors: M
authors: Sharma
mesh_terms: D000071916:AC133 Antigen / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014786:Vision Disorders / Q000209:etiology
chemical_list: D000071916:AC133 Antigen