J Korean Ophthalmol Soc.  1998 Oct;39(10):2494-2498.

Autosomal Dominant Cerebellar Ataxia Type II Associated with Optic Atrophy

• Kim IT
• Shim SD

Abstract

Autosomal dominant cerebellar ataxia(ADCA) is an unusual, familial hereditary disorder that ha been called olivopontocerebellar atrophy. ADCA type II is usually accompanied with severely decreased visual acuity and cerebellar ataxia. We experienced a 39 year-old female with ADCA type II who had the severely decreased visual acuity and progressive familial cerebellar ataxia. The diagnosis for ADCA type II was made through several ophthalmic examinations. brain magnetic resonance imaging, and chromosomal study. When ophthalmologists encounter a patient with decreased visual acuity and cerebellar ataxia, this disorder should not be overlooked. We report this unusual case with literature review.

Keyword

Autosomal dominant cerebellar ataxia; Familiar hereditary disorder; Optic atrophy

MeSH Terms

Adult
Brain
Cerebellar Ataxia*
Diagnosis
Female
Humans
Magnetic Resonance Imaging
Olivopontocerebellar Atrophies
Optic Atrophy*
Visual Acuity