Bilateral optic atrophy in Wilson disease: A case report and literature review

Fei Chen; Chunli Chen; Yang Zhang; Libin Jiang; Zhiqin Huang; Fred K Chen

doi:10.1016/j.clinre.2024.102299

Bilateral optic atrophy in Wilson disease: A case report and literature review

Clin Res Hepatol Gastroenterol. 2024 Mar;48(3):102299. doi: 10.1016/j.clinre.2024.102299. Epub 2024 Feb 15.

Authors

Fei Chen¹, Chunli Chen², Yang Zhang³, Libin Jiang⁴, Zhiqin Huang², Fred K Chen⁵

Affiliations

¹ Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, No 1, Dongjiaominxiang Street, Dongcheng District, Beijing, 100730, China; Department of Ophthalmology, Tengzhou Central People's Hospital, No.181 Xingtan Road, Tengzhou City, Shandong Province, 277500, China.
² Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, No 1, Dongjiaominxiang Street, Dongcheng District, Beijing, 100730, China.
³ Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, No 1, Dongjiaominxiang Street, Dongcheng District, Beijing, 100730, China; Beijing Institute of Ophthalmology, Beijing, China.
⁴ Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, No 1, Dongjiaominxiang Street, Dongcheng District, Beijing, 100730, China. Electronic address: jlbjlb@sina.com.
⁵ Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia; Lions Eye Institute, Nedlands, WA, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia; Department of Ophthalmology, Perth Children's Hospital, Nedlands, WA, Australia.

PMID: 38365087
DOI: 10.1016/j.clinre.2024.102299

Abstract

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.

Keywords: Optic atrophy; Optic neuropathy; Wilson disease.

Publication types

Review
Case Reports

MeSH terms

Adolescent
Copper
Female
Hepatolenticular Degeneration* / complications
Hepatolenticular Degeneration* / diagnosis
Humans
Optic Atrophy* / complications
Optic Nerve Diseases* / complications

Substances

Copper