title: OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES.
abstract: OBJECTIVE
  To report a case of occult macular dystrophy associated with mutations in the RP1L1 and KCNV2 genes.
  
  
  METHODS
  Case report. Multimodal retinal imaging and the results of genetic testing are described.
  
  
  RESULTS
  A 27-year-old Chinese man presented with complaints of decreased central vision and normal retinal examination. Color fundus photography and fundus autofluorescence were unremarkable. Spectral-domain optical coherence tomography did reveal central ellipsoid loss in each eye. Genetic testing confirmed mutations in the RP1L1 and KCNV2 genes.
  
  
  CONCLUSIONS
  The presence of central ellipsoid loss with spectral-domain optical coherence tomography should be evaluated for genetic disorders such as RP1L1 and KCNV2 mutations.
authors: *Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California; and †Greater Los Angeles Veterans Administration Healthcare Center, Los Angeles, California.
authors: Negin
authors: N
authors: Agange
authors: David
authors: D
authors: Sarraf
mesh_terms: D000328:Adult; D005136:Eye Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D009154:Mutation; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics*; D014786:Vision Disorders / Q000209:etiology
chemical_list: D005136:Eye Proteins; C489610:KCNV2 protein, human; D024642:Potassium Channels, Voltage-Gated; C474032:RP1L1 protein, human