title: Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.
abstract: OBJECTIVE
  To describe the clinical, molecular, and serologic findings of a case in which autoimmune retinopathy and early-onset heritable retinal degeneration were both considered in the differential diagnosis.
  
  
  METHODS
  A 3-year-old girl had clinical findings suggestive of a childhood-onset retinal degeneration. Samples of DNA and serum were collected. The coding regions of 11 genes associated with Leber congenital amaurosis were sequenced. The patient's serum reactivity to soluble and insoluble fractions of human retinal protein was compared with that of healthy control subjects (n = 32), patients with inflammatory eye disease (n = 80), and patients with molecularly confirmed retinal degenerations (n = 11). Two-dimensional gel electrophoresis and mass spectrometry were used to identify a protein that corresponded to a reactive band on Western blot.
  
  
  RESULTS
  No plausible disease-causing mutations were identified in any of the retinal disease genes tested. However, the patient's serum showed reactivity to a single retinal antigen of approximately 47 kDa. Two-dimensional gel electrophoresis and mass spectrometry revealed the major reactive species to be neuron-specific enolase (NSE). Autoantibodies targeting NSE were not observed in any healthy control subjects or patients with inflammatory eye disease. However, anti-NSE activity was found in 1 child with molecularly confirmed Leber congenital amaurosis.
  
  
  CONCLUSIONS
  This patient's clinical and laboratory findings coupled with the recently discovered role of anti-NSE antibodies in canine autoimmune retinopathy suggest that autoantibodies targeting NSE are involved in the pathogenesis of her disease.
  
  
  CONCLUSIONS
  Infection or inflammation within the retina early in life may lead to an autoimmune phenocopy of early-onset inherited retinal degeneration.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, 52242, USA.
authors.forename: Audrey C
authors.initials: AC
authors.lastname: Ko
authors.forename: Jasmine
authors.initials: J
authors.lastname: Hernández
authors.forename: Jason P
authors.initials: JP
authors.lastname: Brinton
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Faidley
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Mugge
authors.forename: Marilyn B
authors.initials: MB
authors.lastname: Mets
authors.forename: Randy H
authors.initials: RH
authors.lastname: Kardon
authors.forename: James C
authors.initials: JC
authors.lastname: Folk
authors.forename: Robert F
authors.initials: RF
authors.lastname: Mullins
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000097:blood*; D001324:Autoantigens / Q000235:genetics / Q000276:immunology*; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D015153:Blotting, Western; D002675:Child, Preschool; D002825:Chorioretinitis / Q000235:genetics / Q000276:immunology; D004252:DNA Mutational Analysis; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D010751:Phosphopyruvate Hydratase / Q000235:genetics / Q000276:immunology*; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000235:genetics / Q000276:immunology; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; D010751:Phosphopyruvate Hydratase