Department of Ophthalmology, Policlinico Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy.
Medical Genetics Laboratory, MAGI Euregio S.c.s, Bolzano, Italy.
Clin Exp Ophthalmol. 2018 Jul;46(5):519-530. doi: 10.1111/ceo.13115. Epub 2017 Dec 28.
To study the photopic negative response of the full-field photopic electroretinography (ERG) in Stargardt patients with pathogenic variants in the ABCA4 gene.
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.
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).
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.
研究 ABCA4 基因突变的 Stargardt 病患者全视野明视闪光视网膜电图（ERG）的明视负向反应。
回顾性分析了意大利罗马 Fondazione Policlinico Universitario A. Gemelli/Università Cattolica del Sacro Cuore 眼科的 35 名 ABCA4 基因突变的 Stargardt 病患者，并与正常年龄匹配的对照组进行比较。
大多数 Stargardt 病患者的全视野明视闪光 ERG 的明视负向反应受损。在 B 波正常的情况下，明视负向反应与 B 波的振幅比在检测患病眼方面具有 97%的准确性（受试者工作特征曲线）。
在 ABCA4 致病性突变的 Stargardt 病患者中，全视野明视闪光 ERG 的明视负向反应是一种非常敏感的疾病检测指标。在 Stargardt 病的随访中，将其纳入标准 ERG 分析将是一种无成本的实用附加措施。明视负向反应的早期损伤表明，内视网膜功能可能比以前认为的更早受到影响。
