Shijing Wu, Ailing Sui, Qianyi Zhan, Qiuli Fu, Li Zhang
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Abstract
Background: Neuronal intranuclear inclusion disease (NIID) is a rare autosomal dominant, progressive neurodegenerative disorder characterized by a broad spectrum of clinical conditions, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction.
Case report: A 56-year-old woman presented night blindness since her youth, followed by tremors. She complained diminished vision in the left eye attributed to the presence of a macular hole. Ophthalmic examination showed obvious retinal degeneration in both eyes. Genetic testing result identified a heterozygous CGG repeat expansion in NOTCH2NLC gene. Visual acuity of left eye improved after vitrectomy.
Conclusions: We reported detailed clinical features and genetic analysis of a new Chinese NIID patient who ocular symptom was the initial manifestation. And this was the first report of surgical case of a macular hole in NIID patient.
期刊介绍：
Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).
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