Domínguez-Serrano F de Borja, Jiménez-López E, Ramos Jiménez M, Ponte-Zuñiga B, Gómez-Escobar A, Díaz-Granda M J, Gutiérrez-Sánchez E, Morillo-Sánchez M J, Menéndez-de-León C, Rodríguez-de-la-Rúa-Franch E
UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, España.
UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, España.
Arch Soc Esp Oftalmol (Engl Ed). 2019 Apr;94(4):160-164. doi: 10.1016/j.oftal.2018.12.009. Epub 2019 Jan 30.
The diagnosis of retinal dystrophies is complex and is based on complete ophthalmological study, genetic study and electrophysiological studies (EPS). In this study, we intend to evaluate the role of electrophysiological and medical tests in the diagnosis of retinal dystrophies.
A retrospective observational study was conducted on 50 selected patients that attended the Neurophysiology Department of the University Hospital Virgen Macarena. An analysis was made of the variables that included, gender, age, referral hospital, reason for which the EPS was requested, applied EPS, genetic study, presumed diagnosis, and definitive diagnosis after EPS. A classification system was subsequently developed, which gives each case a value between 0 and 2, depending on the contribution of the electrophysiological tests to the final diagnosis.
The mean age was 44.34 ±18.03 years (60% women). Retinitis pigmentosa (24%), optic neuropathy (12%), and Stargardt's disease (8%) were the most frequent diagnoses. The EPS modified the presumed diagnosis in 48% of the cases, confirmed the diagnosis in 44%, and did not provide any useful information in 8%. The contribution of the EPS was greater in patients seen in the HUVM and when requested by findings in the examination (P=.001). The false positives in the diagnosis of retinal dystrophy were 60% in patients not evaluated by the University Hospital Virgen Macarena.
Electrophysiological test and specialised management of patients with retinal dystrophies play an important role in the diagnosis of these conditions.
视网膜营养不良的诊断较为复杂，需基于全面的眼科检查、基因研究及电生理检查（EPS）。在本研究中，我们旨在评估电生理检查和医学检测在视网膜营养不良诊断中的作用。
对50例入选的患者进行了一项回顾性观察研究，这些患者来自马卡雷纳圣母大学医院神经生理学部。分析了包括性别、年龄、转诊医院、进行EPS检查的原因、应用的EPS检查、基因研究、初步诊断以及EPS检查后的最终诊断等变量。随后制定了一个分类系统，根据电生理检查对最终诊断的贡献，给每个病例赋予一个介于0到2之间的值。
平均年龄为44.34±18.03岁（女性占60%）。最常见的诊断为色素性视网膜炎（24%）、视神经病变（12%）和斯塔加特病（8%）。EPS改变了48%病例的初步诊断，证实了44%病例的诊断，在8%的病例中未提供任何有用信息。在马卡雷纳圣母大学医院就诊的患者以及因检查结果而进行EPS检查时，EPS的贡献更大（P = 0.001）。未在马卡雷纳圣母大学医院接受评估的患者中，视网膜营养不良诊断的假阳性率为60%。
视网膜营养不良患者的电生理检查及专业管理在这些疾病的诊断中起着重要作用。
