title: Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients.
abstract: OBJECTIVE
  To investigate visual function in patients with CEP290 Leber congenital amaurosis (LCA-CEP290), using three full-field tests that can be performed by patients with poor fixation.
  
  
  METHODS
  Six patients (age range, 9-39 years) with LCA-CEP290 participated in the study. Stimuli for all three tests (full-field stimulus test [FST], pupillometry, and light discomfort threshold [LDT] testing) were generated by the Diagnosys ColorDome ganzfeld, by using achromatic stimuli as well as long- and short-wavelength stimuli to target rod and cone photoreceptors with all three tests and, in the latter two tests, melanopsin photoreceptors.
  
  
  RESULTS
  Dark-adapted FST thresholds in LCA-CEP290 patients were cone mediated and elevated between 4.8 and 6.2 log units above the normal achromatic threshold. The FST threshold was not measurable in one patient. The rod-mediated transient pupillary light reflex (PLR) was absent in all but the youngest patient, where unreliable responses precluded PLR quantification. Cone-mediated transient PLRs were subnormal in five patients, and absent in another. Sustained melanopsin-mediated PLRs were measurable in all patients. Full-field LDT thresholds were elevated compared to normal controls, and were lower for short-wavelengh than for long-wavelength stimuli.
  
  
  CONCLUSIONS
  The FST thresholds and transient PLRs were cone mediated in our cohort LCA-CEP290 patients. Rod-mediated PLRs were undetectable, whereas melanopsin-mediated sustained responses were detected in all patients, suggesting a relative preservation of inner-retina function. The LDT elevations for the patients are somewhat paradoxical, given their subjective perception of photoaversion. Relative aversion to short-wavelength light suggests influence from melanopsin on LDTs in these patients.
authors.affiliation: The Pangere Center for Inherited Retinal Diseases The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, Illinois, United States.
authors.forename: Frederick T
authors.initials: FT
authors.lastname: Collison
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Illinois, United States.
authors.forename: Jason C
authors.initials: JC
authors.lastname: Park
authors.affiliation: The Pangere Center for Inherited Retinal Diseases The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, Illinois, United States 2Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicin.
authors.forename: Gerald A
authors.initials: GA
authors.lastname: Fishman
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Illinois, United States.
authors.forename: J Jason
authors.initials: JJ
authors.lastname: McAnany
authors.affiliation: The University of Iowa Carver College of Medicine, Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Howard Hughes Medical Institute, Iowa City, Iowa, United States.
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D000293:Adolescent; D000328:Adult; D000951:Antigens, Neoplasm / Q000096:biosynthesis / Q000235:genetics; D018797:Cell Cycle Proteins; D002648:Child; D003598:Cytoskeletal Proteins; D003623:Dark Adaptation / Q000502:physiology*; D005260:Female; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D008297:Male; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D010775:Photic Stimulation; D012025:Reflex, Pupillary / Q000502:physiology*; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology; D012684:Sensory Thresholds / Q000502:physiology*; D055815:Young Adult
chemical_list: D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins