Autosomal Dominant Cerebellar Ataxia Type II Associated with Optic Atrophy. |
In Taek Kim, Sam Do Shim |
Department of Ophthalmology, School of Medicine, Kyungpok National University, Taegu, Korea. |
시신경위축과 연관된 상염색체우성 소뇌성운동실조증 |
김인택(In Taek Kim),심삼도(Sam Do Shim) |
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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. |
Key Words:
Autosomal dominant cerebellar ataxia;Familiar hereditary disorder;Optic atrophy |
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