对患有Best黄斑营养不良的家庭进行遗传咨询。

Genetic counseling of families with Best macular dystrophy.

作者信息

Bard L A, Cross H E

出版信息

Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol. 1975 Nov-Dec;79(6):OP865-73.

PMID:1209822

Abstract

We have examined 233 members of eight families with BMD. Of these, 169 were also examined with EOG. Sibships wherer greater than or equal to 80% of members were examined clinically and with EOG totaled 39. The results established both the validity and reliability of EOG testing in detecting people genetically affected with BMD. Hyperopia is established as an important manifestation of the disease. The visual prognosis of BMD is described.

摘要

我们对8个患有双眼黄斑营养不良（BMD）的家族中的233名成员进行了检查。其中，169人还接受了眼电图（EOG）检查。临床检查和EOG检查成员比例大于或等于80%的同胞组共有39个。结果证实了EOG检测在检测受BMD基因影响人群方面的有效性和可靠性。远视被确认为该疾病的一个重要表现。本文描述了BMD的视觉预后情况。