@article{oai:kanazawa-u.repo.nii.ac.jp:00013659,
 author = {高田, 祥平 and 新田, 耕治 and 棚橋, 俊郎 and 杉山, 和久},
 issue = {6},
 journal = {日本眼科學会雜誌 = Journal of Japanese Ophthalmological Society},
 month = {Jun},
 note = {目的：家族内発生と考えられたsuperior segmental optic hypoplasia(以下SSOH)を含む視神経低形成の2家系について報告する. 症例：症例1(家系1)と症例2(家系1)は姉妹例である. 症例3(家系2)と症例4(家系2)は親子例, 症例3と症例5(家系2)は兄妹例である. 家系1の2症例はそれぞれ片眼のSSOHであったが, 家系2の3症例は同一家系内でもSSOH, 視神経鼻側低形成, 広範囲な視神経低形成と多様な病像を呈した. 症例1と3は前医で正常眼圧緑内障と診断され, 点眼加療されていた. 今回示した症例の中では全身疾患を有するものはない. 症例1と2, 症例3と5の父は2型糖尿病で治療中であった. 結論：視神経低形成は家族内発生することがある. また家系2の3症例から, 同一家系内でも視神経の低形成は上方のものから, 鼻側, 広範囲な低形成まで多彩であり, SSOHは視神経低形成の一亜型と考えられた. 　　Purpose : To report two familial cases of optic nerve hypoplasia including superior segmental optic hypoplasia (SSOH). Cases : In Family 1, case 1 and case 2 were sisters. In Family 2, case 3 was the mother of case 4 and the younger sister of case 5. The cases in Family 1 had SSOH in one eye, whereas Family 2 showed various patterns of SSOH, as well as nasal optic nerve hypoplasia, and a wide range of optic nerve hypoplasia. Case 1 and case 3 were diagnosed as normal tension glaucoma and treated with eye drops at a previous hospital. None of the cases had any systemic illness. The father of cases 1 and 2, and the father of Cases 3 and 5 were under treatment for type 2 diabetes mellitus. Conclusion : In this study, SSOH seemed to be prevalent among family members. In addition, as the cases in Family 2 illustrate, hypoplasia of the optic nerve showed various patterns in the superior segment, nasal segment, and over a wide range of the optic nerve. Therefore SSOH was just one part of the overall optic nerve hypoplasia.},
 pages = {664--671},
 title = {Superior segmental optic hypoplasia を含む視神経低形成の2家系},
 volume = {113},
 year = {2009}
}