Mäntyjärvi M, Tuppurainen K
Department of Ophthalmology, University of Kuopio, Finland.
Acta Ophthalmol (Copenh). 1989 Jun;67(3):234-42. doi: 10.1111/j.1755-3768.1989.tb01864.x.
Progressive cone-rod dystrophy was diagnosed in a 35-year-old man (the proband). In the family study, 29 of the relatives were examined. The brother of the proband was also found to have cone-rod dystrophy. In the family of the mother of the proband, there were four men who had high myopia possibly connected with cone-rod dystrophy. The other relatives had no signs of cone-rod dystrophy or high myopia. The relatives not examined were reported healthy with no eye trouble. The disorder could be autosomal recessive hereditary if only the confirmed cone-rod dystrophy of the proband and his brother is taken in consideration. However, no relationships between the families of the mother and father of the proband could be found going back to the year 1830. Therefore, the autosomal recessive inheritance was not established. The most probable mode of inheritance would be X-chromosomal recessive if high myopia and cone-rod dystrophy are thought to be parts of the same syndrome.
一名35岁男性（先证者）被诊断为进行性视锥-视杆营养不良。在家族研究中，对29名亲属进行了检查。先证者的兄弟也被发现患有视锥-视杆营养不良。在先证者母亲的家族中，有四名男性患有高度近视，可能与视锥-视杆营养不良有关。其他亲属没有视锥-视杆营养不良或高度近视的迹象。未接受检查的亲属报告身体健康，没有眼部问题。如果仅考虑先证者及其兄弟确诊的视锥-视杆营养不良，该疾病可能是常染色体隐性遗传。然而，追溯到1830年，在先证者父母的家族之间未发现任何关联。因此，常染色体隐性遗传未得到证实。如果高度近视和视锥-视杆营养不良被认为是同一综合征的一部分，最可能的遗传方式将是X染色体隐性遗传。
