Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease
Shijing Wu1, Ailing Sui1, Qianyi Zhan1
1Zhejiang University, Eye Center of Second Affiliated Hospital, School of Medicine. Zhejiang Provincial Key Laboratory of Ophthalmology. Zhejiang Provincial Clinical Research Center for Eye Diseases. Zhejiang Provincial Engineering Institute on Eye Diseases, Hangzhou, China.
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.
