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Clin Exp Ophthalmol. 2018 Jul;46(5):519-530. doi: 10.1111/ceo.13115. Epub 2017 Dec 28.

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

Author information

1
Department of Ophthalmology, Policlinico Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.
2
Medical Genetics Laboratory, MAGI Euregio S.c.s, Bolzano, Italy.
3
Institute of Neuroscience CNR, Pisa, Italy.

Abstract

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.

KEYWORDS:

Stargardt disease; photopic electroretinography; photopic negative response; retina

PMID:
29178665
DOI:
10.1111/ceo.13115

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