Premium
Early impairment of the full‐field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene
Author(s) -
Abed Edoardo,
Placidi Giorgio,
Campagna Francesca,
Federici Matteo,
Minnella Angelo,
Guerri Giulia,
Bertelli Matteo,
Piccardi Marco,
GalliResta Lucia,
Falsini Benedetto
Publication year - 2018
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/ceo.13115
Subject(s) - photopic vision , abca4 , stargardt disease , erg , electroretinography , medicine , ophthalmology , retinal , genetics , biology , gene , phenotype
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.