[Two familial cases of optic nerve hypoplasia including superior segmental optic hypoplasia]

To report two familial cases of optic nerve hypoplasia including superior segmental optic hypoplasia (SSOH).

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.

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.