Yassur Y, Nissenkorn I, Ben-Sira I, Kaffe S, Goodman R M
Am J Ophthalmol. 1982 Sep;94(3):338-43. doi: 10.1016/0002-9394(82)90359-2.
Hereditary retinoschisis affected eight members of three generations of a family. The mode of transmission and the clinical features were not compatible with findings noted in either X-chromosome-linked or autosomal recessive forms of retinoschisis. The genetic and clinical features in this family strongly supported autosomal dominant inheritance, adding to the known genetic heterogeneity for the hereditary forms of retinoschisis. The expression of the condition varied in severity, but all affected members of the family had peripheral retinoschisis and peripheral retinal degeneration. Three had maculoschisis and five had macular pigmentary changes. Electroretinographic findings were normal in six of the eight.
遗传性视网膜劈裂症累及一个家族三代中的八名成员。其遗传方式和临床特征与X染色体连锁或常染色体隐性遗传形式的视网膜劈裂症的表现均不相符。该家族的遗传和临床特征有力地支持了常染色体显性遗传，这也增加了遗传性视网膜劈裂症已知的遗传异质性。该病的表现严重程度各异，但家族中所有受累成员均有周边视网膜劈裂和周边视网膜变性。三人有黄斑劈裂，五人有黄斑色素改变。八名患者中有六人视网膜电图检查结果正常。
