J Korean Ophthalmol Soc.  1980 Dec;21(4):633-635.

A Case of Osteopetrosis with Optic Atrophy

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

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.


MeSH Terms

Atrophy
Child
Congenital Abnormalities
Extremities
Female
Femur
Humans
Optic Atrophy*
Osteopetrosis*
Rare Diseases
Skull
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