A Case of Osteopetrosis with Optic Atrophy.

Roh, Young Bae; Cho, Kyu Ryong; Jo, Kyung Il; Jo, Yong Hynn; Lee, Song Hee; Pak, Byung Guk

Case Report

Journal of the Korean Ophthalmological Society 1980;21(4):633-635.
Published online April 1, 1980.

A Case of Osteopetrosis with Optic Atrophy.

Young Bae Roh, Kyu Ryong Cho, Kyung Il Jo, Yong Hynn Jo, Song Hee Lee, Byung Guk Pak

¹Department of Ophthalmology College of Medicine, Busan National University, Busan, Korea.
²Department of Ophthalmology, In Je Medical College, Busan, Korea.

양안 시신경위축을 동반한 Osteopetrosis 1예

이송희(Song Hee Lee),박병국(Byung Gook Park),조용현(Yong Hyun Cho),조경일(Kyung Il Cho),조규룡(Kyu Ryong Cho),노영배(Young Bae Roh)

Abstract

The authors experienced a case of osteopetrosis with optic atrophies and nystagmoid movements, exceedingly rare disease, in 12 year-old girl for 5 years without fracture in long bone. On the X-ray studies: 1. The skull bone showed moderately increased osteosclerotic changes in base of the skull and narrowings in optic foramina. 2. The findings of the extremities showed flask shaped deformities and cortical thickness in both femurs. and transverse line and epiphyseal separations in mid-tibia.