Neuronal Intranuclear Inclusion Disease with a Corneal Disorder: A Case Report
Mohamed Talaat Mohamed,
Daisuke Inoue,
Shunsuke Yoshimura,
Masafumi Uematsu,
Yasser Helmy Mohamed,
Mao Kusano,
Diya Tang,
Akio Oishi,
Takashi Kitaoka,
Gou Takeo,
Akihiro Ohira
Affiliations
Mohamed Talaat Mohamed
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Daisuke Inoue
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Shunsuke Yoshimura
Department of Neurology and Strokology, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Masafumi Uematsu
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Yasser Helmy Mohamed
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Mao Kusano
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Diya Tang
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Akio Oishi
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Takashi Kitaoka
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
Gou Takeo
Department of Neurology, Sasebo Chuo Hospital, 15 Yamatocho, Sasebo City 857-1195, Japan
Akihiro Ohira
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan
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–Bonnet 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.
