{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T14:03:47Z","timestamp":1771855427479,"version":"3.50.1"},"reference-count":16,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T00:00:00Z","timestamp":1729555200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder characterized by the formation of intranuclear inclusions in cells. Adult-type NIID usually develops in elderly patients with various clinical manifestations and is sometimes accompanied by ocular symptoms. A case of adult-onset NIID with early and unique manifestations, including a progressive corneal defect and retinal changes, which are concerning at a young age, is reported. Case Presentation: A 29-year-old woman with adult sporadic NIID presented to our department with a progressive corneal disorder. Her neurological symptoms started at the age of 22 years, and she was diagnosed with NIID by skin biopsy and genetic testing. Ocular examination revealed bilateral corneal superficial punctate keratitis, right corneal opacity, decreased vision, nocturnal lagophthalmos, and early retinal changes. Corneal nerve fiber atrophy was detected by in vivo confocal microscopy. With a Cochet\u2013Bonnet aesthesiometer, the progression of NIID and decreased corneal sensation were confirmed. Findings consistent with neurotrophic keratitis and keratoconjunctivitis due to nocturnal lagophthalmos were both suggested as being complications of her underlying NIID. Treatment with punctal plugs, sodium hyaluronate eye drops, diquafosol sodium eye drops, systemic and local antivirals, and local steroid medications resulted in the gradual improvement in the irregularity and opacity of the epithelium. Conclusions: NIID may lead to neurotrophic keratopathy due to impairment of the corneal sensory nerves. Nocturnal lagophthalmos is a remarkable finding in a case of NIID. The findings in the present case highlight the complex and multifaceted nature of NIID, with neurological and ocular manifestations requiring a multidisciplinary approach to management.<\/jats:p>","DOI":"10.3390\/medicina60111730","type":"journal-article","created":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T11:31:57Z","timestamp":1729596717000},"page":"1730","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Neuronal Intranuclear Inclusion Disease with a Corneal Disorder: A Case Report"],"prefix":"10.3390","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2399-1155","authenticated-orcid":false,"given":"Mohamed Talaat","family":"Mohamed","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6127-1846","authenticated-orcid":false,"given":"Daisuke","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunsuke","family":"Yoshimura","sequence":"additional","affiliation":[{"name":"Department of Neurology and Strokology, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Uematsu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6346-6690","authenticated-orcid":false,"given":"Yasser Helmy","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mao","family":"Kusano","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diya","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0977-9458","authenticated-orcid":false,"given":"Akio","family":"Oishi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kitaoka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gou","family":"Takeo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sasebo Chuo Hospital, 15 Yamatocho, Sasebo City 857-1195, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1307-5592","authenticated-orcid":false,"given":"Akihiro","family":"Ohira","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan"},{"name":"Department of Ophthalmology, Sasebo Chuo Hospital, 15 Yamatocho, Sasebo City 857-1195, Japan"},{"name":"Department of Ophthalmology, School of Medicine, Shimane University, 89-1 Enya-cho, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1136\/jnnp-2022-329772","article-title":"Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease","volume":"93","author":"Tian","year":"2022","journal-title":"J. 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