De Becker I, Riddell D C, Dooley J M, Tremblay F
Dalhousie University, IWK Children's Hospital, Halifax, Nova Scotia, Canada.
Br J Ophthalmol. 1994 Sep;78(9):719-22. doi: 10.1136/bjo.78.9.719.
Fifteen consecutive patients with the Duchenne muscular dystrophy (DMD) phenotype were studied. Each patient was asked to undergo an ophthalmic examination, an electroretinogram (ERG), and to donate a blood sample for molecular diagnosis. All 15 patients had a normal ophthalmic examination. Electroretinography was successful in 14/15 patients. The ERG tracings were normal in seven patients, abnormal in seven, and unreliable in one. Blood for molecular analysis was obtained in 12/15 patients. In the seven patients with a normal ERG, five underwent molecular analysis, and in these five no deletion was detected in the dystrophin gene. In the seven patients with an abnormal ERG, six had molecular analysis available, and all six were found to have a deletion. These results suggest that patients with a classic DMD phenotype are genetically heterogeneous, and that this heterogeneity is reflected in the ERG.
对15例连续的具有杜氏肌营养不良（DMD）表型的患者进行了研究。要求每位患者接受眼科检查、视网膜电图（ERG）检查，并捐献一份血样用于分子诊断。所有15例患者的眼科检查均正常。15例患者中有14例成功进行了视网膜电图检查。7例患者的ERG描记图正常，7例异常，1例不可靠。15例患者中有12例获得了用于分子分析的血液样本。在ERG正常的7例患者中，5例进行了分子分析，这5例患者的肌营养不良蛋白基因均未检测到缺失。在ERG异常的7例患者中，6例进行了分子分析，所有6例均发现有缺失。这些结果表明，具有典型DMD表型的患者在基因上是异质的，并且这种异质性在ERG中有所体现。
