Kellner U, Jandeck C, Kraus H, Foerster M H
Augenklinik, Universitätsklinikum Benjamin Franklin, Freie Universität Berlin.
Ophthalmologe. 1998 Sep;95(9):597-601. doi: 10.1007/s003470050321.
Analysis of a consecutive series of patients suffering from hereditary macular dystrophies.
Between 1991 and 1997, 136 patients underwent clinical and electrophysiologic examinations (Ganzfeld ERG, EOG or multifocal ERG).
The time of first examination was similar to the onset of clinical signs in most patients. In half of the patients onset was not before 40 years of age. In younger patients, Stargardt disease, X-linked retinoschisis and Best disease were the most frequent disorders. In patients aged 40 year and older, pattern dystrophies and central areolar choroidal dystrophy were more frequent. In 41 cases (30.2%) a specific diagnosis could not be made. Color vision and multifocal ERG were abnormal in all patients examined. Ganzfeld ERG was important for the diagnosis of X-linked retinoschisis, as was the EOG for Best disease.
Hereditary macular dystrophies are a heterogeneous group of disorders. In several cases a definite diagnosis could not be made. Pattern dystrophies are the most frequent hereditary macular dystrophies in patients older than 40 years of age.
对一系列连续性遗传性黄斑营养不良患者进行分析。
1991年至1997年间，136例患者接受了临床及电生理检查（全视野视网膜电图、眼电图或多焦视网膜电图）。
多数患者首次检查时间与临床症状出现时间相近。半数患者发病年龄不早于40岁。年轻患者中，斯塔加特病、X连锁视网膜劈裂症和贝斯特病最为常见。40岁及以上患者中，图案性营养不良和中心性晕轮状脉络膜营养不良更为常见。41例（30.2%）患者无法做出明确诊断。所有接受检查的患者色觉和多焦视网膜电图均异常。全视野视网膜电图对X连锁视网膜劈裂症的诊断很重要，眼电图对贝斯特病的诊断也很重要。
遗传性黄斑营养不良是一组异质性疾病。在一些病例中无法做出明确诊断。图案性营养不良是40岁以上患者中最常见的遗传性黄斑营养不良。
