不完全型類似の先天性停止性夜盲の母子例

Congenital stationary night blindness simulating incomplete type in a mother and daughters

（P1-2-7）　4世代17名中3世代4名が罹患者であった陰性波網膜電図を示す先天性停止性夜盲（CSNB）の1家系について報告した。罹患者4名中3名は杆体機能が保存され性染色体劣性型CSNBの中の不完全型に類似した特徴を有し，残りの1名は家系調査から杆体機能の欠落した完全型類似の異常が疑われた。第2世代に罹患者が見つかっていないが，これまでの結果から常染色体優性型CSNBの家系であることが強く疑われる。

We studied a pedigree of congenital stationary night blindness (CSNB) with negative electroretinogram. It involved 4 members in the first, third and fourth generation out of 17 members over 4 generations. Three affected members, a 29-year-old female and her 2 daughters who were monozygous twins, showed subnormal rod function simulating incomplete type of X-linked recessive CSNB. The other member in the first generation, who was already deceased, appeared to have had complete type CSNB lacking rod functions from histories. The findings strongly suggest that pedigree has autosomal dominant CSNB.