| 발표일자: |
2019년 11월 1일(금)~3(일) |
| 발표번호: |
P(e-poster)-391 |
| 발표장소: |
B3 Parking Area
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| Bilateral optic neuropathy as a first presentation of Wilson’s disease. |
| Faculty of medicine chulalongkorn university |
| Sriprapa Komarakul Na Nagara(1), Supanut Apinyawasisuk(2), Supharat Jariyakosol(3), Priya Jagota(4), Supawut Ungvijanpunya(5) |
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Purpose : To report a patient with Wilson’s disease (WD) who first presented with bilateral sequential optic neuropathy without any neurologic or hepatic involvement.
Methods : A single case report.
Results : A 32-year-old Thai male presented with subacute painless blurred vision in his left eye with left relative afferent pupillary defect (RAPD). He was first diagnosed as presumed left optic neuritis. Magnetic resonance imaging (MRI) of the brain and orbits showed hyperintense T2 change of the left intraorbital optic nerve without enhancement. Other laboratory investigations including cerebrospinal fluid (CSF) analysis, aquaporin-4 antibody and autoimmune profile were normal. He was treated with high dose intravenous methylprednisolone followed with slow taper oral prednisolone and azathioprine without visual improvement. Five patient was again treated with high dose intravenous corticosteroid and followed with slow taper oral prednisolone and referred to our institute. On examination his visual acuity were 20/80 in the right eye and no light perception in the left eye. Kayser-Fleischer (KF) ring and golden brown deposit in Descemet’s membrane were found in both eyes. Right optic disc appeared normal and left optic disc was pale. Laboratory investigations including low serum ceruloplasmin, elevated 24-hour urine copper supported the diagnosis of WD. Complete neurological examination was unremarkable and hepatic enzymes were normal. The patient was started with D-penicillamine (250 mg/day) without visual improvement at one week post-treatment.
Conclusion : Optic neuropathy could be a rare, initial presentation of WD. Thorough ophthalmologic examination will assist in WD diagnosis. Early diagnosis and prompt treatment may preserve vision and limit the disease's systemic sequelae.
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