医学
萎缩
疾病
病理
地理萎缩
皮肤病科
眼科
黄斑变性
作者
Fei Chen,Chunli Chen,Yang Zhang,Libin Jiang,Zhi-Qin Huang,Fred K. Chen
标识
DOI:10.1016/j.clinre.2024.102299
摘要
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical manifestations of WD are complex and variable, with Kayser–Fleischer ring (K-F ring) and the sunflower cataract being the most common ocular findings. Visual impairment is rare in patients with WD. We report the case of a 17-year-old female with bilateral optic atrophy associated with WD and summarize the clinical features of previously reported cases of optic neuropathy in WD, Clinicians should be aware that WD is a rare cause of optic neuropathy and that optic neuropathy in patients with WD may need to be recognized and screened.
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