原著
先天性眼振を呈した家族性先天性虹彩欠損症の1例
2010 年 69 巻 2 号 p. 76-79
詳細
2010 年 69 巻 2 号 p. 76-79
A case of congenital anidiria with congenital nystagmus was reported. In his family, similar symptoms of anidiria and nystagmus were observed on eight members over three generation. Hereditary anidiria was transferred in autosomal dominant pattern in this pedigree. Nystagmus of this case was not supressed with closed eye, and may be of mixed origin of peripheral anterior visual pathway and central nervous system, as in albinism. Recent articles demonstrated that PAX6 gene was responsible for hereditary anidiria and congenital nystagmus. PAX6 gene has a role in movement of neural cells during development, as responsible gene of albinism has.
