- 期刊
Ocular Defects Associated With Joubert Syndrome: A Case Report
摘要
A nine-year-old boy presented at our hospital with severe mental retardation, progressive ataxia and abnormal ocular findings such as ptosis, diplopia, blurred vision, strabismus, and nystagmus. Moreover, prior to being transferred to our ophthalmology department from the pediatric neurology department, brain magnetic resonance imaging was performed, which showed a typical ＂molar tooth sign.＂ Thus, the patient was diagnosed with Joubert syndrome (JS). Although hypoplasia or agenesis of the cerebellar vermis is the causes of the major clinical symptoms of JS, some ocular abnormalities are often found. The aim of this article was to discuss possible ocular problems in JS.
延伸閱讀
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