ArticleDocumenta ophthalmologica. Advances in ophthalmology2017
Case of adult-onset neuronal intranuclear hyaline inclusion disease with negative electroretinogram.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC.Journal of neurology · 2026Article
- Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Neuronal intranuclear inclusion disease in one family: clinical diversity and diagnostic challenges.Canadian journal of ophthalmology. Journal canadien d'ophtalmologie · 2025Article
- A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report.BMC neurology · 2025Article
- Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series.Frontiers in medicine · 2024Article
- NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.Acta neuropathologica communications · 2023Article
- Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease.Neurology. Genetics · 2023Article
- Neuronal Intranuclear Inclusion Disease-Related Neurotrophic Keratitis: A Case Report.Brain sciences · 2022Article
- Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Clinical and mechanism advances of neuronal intranuclear inclusion disease.Frontiers in aging neuroscience · 2022Review
- Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease.Frontiers in neuroscience · 2022Article
- Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene.Investigative ophthalmology & visual science · 2020Article
- Recent progress in neuronal intranuclear inclusion disease: a review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.Nature genetics · 2019Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report the findings in a 72-year-old man with neuronal intranuclear hyaline inclusion disease (NIHID) with the negative-type electroretinogram (ERG) and without night blindness.
methodsStandard ophthalmological examinations including the medical history, measurements of the best-corrected visual acuity and intraocular pressures, slit-lamp biomicroscopy, ophthalmoscopy, spectral-domain optical coherence tomography, fundus autofluorescence, and perimetry were performed. In addition, neurological and electrophysiological examinations were performed.
resultsNIHID was confirmed by skin biopsy. The ophthalmologic examinations revealed sluggish pupillary reflexes without visual disturbances and retinal abnormalities. The amplitudes of the dark-adapted 0.01 ERG was absent, and light-adapted 3 ERG and light-adapted 30 Hz flicker ERG were reduced in amplitude and delayed in implicit time. The rod system was more severely affected than the cone system, indicating that NIHID is classified as one of rod-cone dysfunction syndrome. The dark-adapted 3 ERG consisted of a markedly reduced b-wave with larger a-wave (negative ERG), but the amplitude of a-wave was smaller than normal.
conclusionsSince the ophthalmoscopical findings and the subjective visual functions may be essentially normal, the characteristic ERG abnormalities can be an important findings in adult-onset NIHID without night blindness.
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