title: Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.
abstract: OBJECTIVE
  To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years.
  
  
  BACKGROUND
  Oculo-auricular syndrome (MIM: 612109) is a rare developmental recessive condition affecting the eye and external ear that results from a mutation in the HMX1 gene. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas and rod-cone dystrophy.
  
  
  METHODS
  Retrospective chart review of an affected boy followed over a period of 12 years who had serial complete ophthalmologic examinations, fundus photographs, Goldmann perimetry and full-field electroretinograms (ERG).
  
  
  RESULTS
  Initial ERG tracings revealed generalized rod more than cone dysfunction. Thereafter, a rapid deterioration in rod and cone function was detected on follow up ERGs.
  
  
  CONCLUSIONS
  The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy. Visual prognosis is guarded considering the progressive nature of the retinal dystrophy in early infancy.
authors.affiliation: Jules-Gonin Eye Hospital, Lausanne, Switzerland. veronikavaclavik@yahoo.co.uk
authors.forename: V
authors.initials: V
authors.lastname: Vaclavik
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: F-X
authors.initials: FX
authors.lastname: Borruat
authors.forename: F L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D000368:Aged; D002648:Child; D004431:Ear, External / Q000002:abnormalities* / Q000473:pathology; D004596:Electroretinography; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005451:Fluorescein Angiography; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics*; D012189:Retrospective Studies; D013577:Syndrome; D041623:Tomography, Optical Coherence; D014157:Transcription Factors / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology
chemical_list: C530064:HMX1 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors