Fishman G A
Arch Ophthalmol. 1978 May;96(5):822-6. doi: 10.1001/archopht.1978.03910050428005.
A total of 173 patients, from 124 families, with retinitis pigmentosa were evaluated for the presence of various forms of genetic transmission. Of the 124 pedigrees, it was evident that some form of genetic transmission had occurred in 59 (48%). In 65 families (52%), the proband was the only known affected family member (isolated case). In those families with know genetic transmission, 17% (10 patients) were X-linked recessive, 39% (23 patients) were either probable or certain autosomal dominant, 41% (24 patients) were certain or probable autosomal recessive, and 3% (2 patients) were of a genetic type that could not be determined with certainty. These findings are, to my knowledge, the first published series from the United States to indicate that the X-linked recessive form of retinitis pigmentosa is a more prevalent genetic trait than has been emphasized previously.
对来自124个家庭的总共173例色素性视网膜炎患者进行了评估，以确定是否存在各种形式的遗传传递。在这124个家系中，显然有59个（48%）发生了某种形式的遗传传递。在65个家庭（52%）中，先证者是唯一已知的患病家庭成员（散发病例）。在那些已知有遗传传递的家庭中，17%（10例患者）为X连锁隐性遗传，39%（23例患者）可能是或肯定是常染色体显性遗传，41%（24例患者）肯定是或可能是常染色体隐性遗传，3%（2例患者）的遗传类型无法确定。据我所知，这些发现是美国首次发表的系列研究，表明色素性视网膜炎的X连锁隐性遗传形式是一种比以前所强调的更为普遍的遗传特征。
