title: Macular dystrophy in Heimler syndrome.
abstract: OBJECTIVE
  To describe the retinal imaging findings in the index patient with Heimler syndrome (OMIM #234580).
  
  
  METHODS
  Non-interventional case report.
  
  
  METHODS
  A 29-year-old woman with Heimler syndrome developed bilateral vision loss. Fluorescein angiography (FA), fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) and electroretinography (ERG) were performed to assess the retinal anatomy and function.
  
  
  RESULTS
  FA showed mottling of the retinal pigment epithelium (RPE) in the posterior pole and periphery of the retina. FAF revealed hyper and hypoautofluorescent dots corresponding to the RPE mottling observed on FA. SD-OCT documented loss of the inner/outer segments boundary, and RPE thinning. ERG testing excluded generalized rod-cone dysfunction.
  
  
  CONCLUSIONS
  We report an adult-onset macular dystrophy in one of the previously reported patients with Heimler syndrome and hypothesize that this syndrome is probably an expression of a ciliopathy.
authors.affiliation: The Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, NY, USA.
authors.forename: Luiz H
authors.initials: LH
authors.lastname: Lima
authors.forename: Irene A
authors.initials: IA
authors.lastname: Barbazetto
authors.forename: Royce
authors.initials: R
authors.lastname: Chen
authors.forename: Lawrence A
authors.initials: LA
authors.lastname: Yannuzzi
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
authors.forename: Richard F
authors.initials: RF
authors.lastname: Spaide
mesh_terms: D000328:Adult; D000567:Amelogenesis Imperfecta / Q000150:complications / Q000175:diagnosis; D001766:Blindness; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000209:etiology*; D009264:Nails, Malformed / Q000150:complications / Q000175:diagnosis; D055213:Retinal Pigment Epithelium / Q000473:pathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity