Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.

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.