title: FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.
abstract: OBJECTIVE
  To describe a case of cone dysfunction associated with fundus albipunctatus.
  
  
  METHODS
  This report is an observational case report. The examination included multimodal imaging, electrophysiological recordings after standard and prolonged dark adaption, and disease targeted gene panel sequencing.
  
  
  RESULTS
  In this report, the authors present a 55-year-old Chinese male with findings on fundus examination, optical coherence tomography, and full-field electroretinography after standard and prolonged dark adaption consistent with fundus albipunctatus associated with cone dysfunction. Disease targeted gene panel sequencing revealed two heterozygous mutations in RDH5 (c.124C>T; p.Arg42Cys and c.500G>A; p.Arg167His).
  
  
  CONCLUSIONS
  The authors report the case of a patient with ophthalmic findings characteristic for cone dysfunction in the setting of genetically confirmed fundus albipunctatus.
authors.affiliation: *Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University, Tuebingen, Germany; †CeGaT GmbH, Tuebingen, Germany; and ‡Werner Reichardt Center for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany.
authors.forename: Laura
authors.initials: L
authors.lastname: Kuehlewein
authors.forename: Fadi
authors.initials: F
authors.lastname: Nasser
authors.forename: Nicola
authors.initials: N
authors.lastname: Gloeckle
authors.forename: Susanne
authors.initials: S
authors.lastname: Kohl
authors.forename: Eberhart
authors.initials: E
authors.lastname: Zrenner
mesh_terms: D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000503:physiopathology*; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology*; D012162:Retinal Degeneration / Q000150:complications*; D012164:Retinal Diseases / Q000209:etiology*