ArticleCase reports in ophthalmology
DNAJC30 Mutation in a Patient with Coexisting Leber's Hereditary Optic Neuropathy and Multiple Sclerosis (Harding's Syndrome): A Case Report.
Article in Case reports in ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Patients with Leber's hereditary optic neuropathy (LHON) have a higher risk of developing multiple sclerosis (MS) than the general population. The coexistence of LHON and MS, also known as Harding's syndrome complicates the diagnosis of optic neuropathy, particularly when the underlying genetic mutation is a rare cause of LHON like Case Presentation: We present a 26-year-old woman with progressive, sequential, painless, bilateral visual loss which was unresponsive to steroids, and two temporally distinct episodes of neurological disturbance suggestive of central nervous system demyelination. Thorough investigations including serological tests ruled out other causes, including negative neuromyelitis optica and myelin oligodendrocyte protein (MOG) antibodies and nutritional deficiencies. MRI detected areas of demyelination within the spinal cord and brain (infratentorial and periventricular areas). After genetic analysis revealing c.152A>G (p.Tyr51Cys) mutation at the Conclusion: This case further expands the clinical presentations of
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