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Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene.

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  • معلومة اضافية
    • المصدر:
      Publisher: Wiley-Blackwell Pub. Asia Country of Publication: Australia NLM ID: 100896531 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1442-9071 (Electronic) Linking ISSN: 14426404 NLM ISO Abbreviation: Clin Exp Ophthalmol Subsets: MEDLINE
    • بيانات النشر:
      Publication: Carlton, Vic. : Wiley-Blackwell Pub. Asia
      Original Publication: Carlton, Vic. : Blackwell Science Asia, c2000-
    • الموضوع:
      Mutation*; ATP-Binding Cassette Transporters/*genetics ; DNA/*genetics ; Electroretinography/*methods ; Macular Degeneration/*congenital ; Visual Acuity/*physiology; ATP-Binding Cassette Transporters/metabolism ; Adolescent ; Adult ; Child ; Female ; Follow-Up Studies ; Humans ; Macular Degeneration/diagnosis ; Macular Degeneration/genetics ; Macular Degeneration/physiopathology ; Male ; Middle Aged ; Phenotype ; ROC Curve ; Retrospective Studies ; Rod Cell Outer Segment/physiology ; Stargardt Disease ; Time Factors ; Tomography, Optical Coherence ; Young Adult
    • نبذة مختصرة :
      Background: To study the photopic negative response of the full-field photopic electroretinography (ERG) in Stargardt patients with pathogenic variants in the ABCA4 gene.
      Methods: A retrospective analysis of 35 Stargardt patients with ABCA4 gene pathogenic variants, compared to normal age-matched controls. Patients were clinically followed at the Ophthalmology Department of Fondazione Policlinico Universitario A. Gemelli/Università Cattolica del Sacro Cuore, Rome, Italy.
      Results: The photopic negative response of the full-field photopic ERG was compromised in most Stargardt patients. In the presence of a normal B-wave, the amplitude ratio between the photopic negative response and the B-wave displayed a 97% accuracy in detecting diseased eyes (receiver operating characteristic curves).
      Conclusions: In Stargardt patients with ABCA4 pathogenic mutations, the photopic negative response of the full-field photopic ERG is a very sensitive disease read-out. Its inclusion in standard ERG analysis would be a no-cost addition of practical consequence in the follow-up of Stargardt disease. The early impairment of the photopic negative response suggests that inner retinal function might be affected in Stargardt disease earlier than previously acknowledged.
      (© 2017 Royal Australian and New Zealand College of Ophthalmologists.)
    • Contributed Indexing:
      Keywords: Stargardt disease; photopic electroretinography; photopic negative response; retina
    • الرقم المعرف:
      0 (ABCA4 protein, human)
      0 (ATP-Binding Cassette Transporters)
      9007-49-2 (DNA)
    • الموضوع:
      Date Created: 20171128 Date Completed: 20190513 Latest Revision: 20240109
    • الموضوع:
      20250114
    • الرقم المعرف:
      10.1111/ceo.13115
    • الرقم المعرف:
      29178665