Langwińska-Wośko Ewa, Szulborski Kamil, Broniek-Kowalik Karina
Ophthalmology Department, Warsaw Medical University, Sierakowskiego 13 Street, 03-709 Warszawa, Poland.
Doc Ophthalmol. 2010 Jun;120(3):215-8. doi: 10.1007/s10633-010-9214-5. Epub 2010 Jan 13.
Cone dystrophies are a hereditary, progressive and heterogeneous group of retinal diseases with cone system degeneration. They lead to reduced visual acuity, colour vision impairment and photophobia. Full-field electroretinogram (ERG) reveals severe cone function impairment, with normal rod responses or slightly depressed in advanced stages in some cases. The purpose of the study was to present a case of late onset cone dystrophy in 47-year-old male and the proper diagnostic procedure. A 47-year-old patient presented with progressive visual loss for several years and mild photophobia, which he observed recently. The patient underwent fundus photography, fluorescein angiography, colour vision testing, Goldmann visual field testing, full-field electroretinogram (ERG) and multifocal electroretinogram (mfERG). Symptoms and signs of late onset cone dystrophy may be unclear and establishing the proper diagnosis may be difficult in these cases. Patients may be misdiagnosed as having other diseases, especially in case of absence or subtle changes in the macula. The electrophysiological testing is essential in these cases, and ERG is the most useful clinical test in early and differential diagnosis of retinal dystrophies.
视锥细胞营养不良是一组遗传性、进行性且异质性的视网膜疾病，伴有视锥系统退化。它们会导致视力下降、色觉障碍和畏光。全视野视网膜电图（ERG）显示严重的视锥细胞功能损害，在某些晚期病例中，视杆细胞反应正常或略有降低。本研究的目的是介绍一例47岁男性迟发性视锥细胞营养不良病例及正确的诊断程序。一名47岁患者出现渐进性视力丧失数年，最近还出现了轻度畏光症状。该患者接受了眼底照相、荧光素血管造影、色觉测试、Goldmann视野测试、全视野视网膜电图（ERG）和多焦视网膜电图（mfERG）检查。迟发性视锥细胞营养不良的症状和体征可能不明显，在这些病例中做出正确诊断可能很困难。患者可能被误诊为患有其他疾病，尤其是在黄斑区无病变或仅有细微变化的情况下。在这些病例中，电生理检查至关重要，而ERG是视网膜营养不良早期和鉴别诊断中最有用的临床检查。
