Nordström S, Thorburn W
Clin Genet. 1980 Sep;18(3):211-6. doi: 10.1111/j.1399-0004.1980.tb00874.x.
In Sweden, more than 250 cases of hereditary macular degeneration (HMD), inherited as an autosomal dominant trait and consistent with Best's disease, have been traced to one gene source in the 17th century. In this large material an apparently homozygous father was found, who was aged 56 and had 11 affected children. One of the children, aged 24, did not show any macular degeneration, but nevertheless she was considereds to be a carrier of the HMD-gene because she had pathological EOG-values. The great variations in expressivity of the disease in the 11 children reflected what has been found as a rule in large Swedish families with HMD. The homozygotic stage did not seem to differ in clinical appearance from the heterozygotic.
在瑞典，超过250例遗传性黄斑变性（HMD）病例可追溯到17世纪的一个基因源头，这些病例以常染色体显性特征遗传，与贝斯特氏病相符。在这个庞大的样本中，发现了一位明显为纯合子的父亲，他56岁，有11个患病子女。其中一个24岁的孩子没有表现出任何黄斑变性，但由于其眼电图值异常，她仍被认为是HMD基因的携带者。这11个孩子中疾病表现度的巨大差异反映了在瑞典患有HMD的大家庭中通常会发现的情况。纯合子阶段在临床表现上似乎与杂合子并无不同。
