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Corneal Confocal Microscopy: A Novel Non-invasive Technique to Quantify Small Fibre Pathology in Peripheral Neuropathies

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Neuronal Intranuclear Inclusion Disease with a Corneal Disorder: A Case Report.

Mohamed Talaat Mohamed¹, Daisuke Inoue¹, Shunsuke Yoshimura²

¹Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan.

Medicina (Kaunas, Lithuania)

|November 27, 2024

Summary

This summary is machine-generated.

Neuronal intranuclear inclusion disease (NIID) can cause early corneal defects and retinal changes in young adults. This case highlights NIID

Keywords:

corneal disorder intranuclear inclusion bodies neuro-ophthalmology neurodegenerative diseases neuronal intranuclear inclusion disease

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Area of Science:

Neuroscience
Ophthalmology
Genetics

Background:

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder.
Adult-onset NIID typically affects elderly individuals with diverse clinical and ocular symptoms.
This report details a unique case of adult-onset NIID in a young patient with early-onset ocular manifestations.

Observation:

A 29-year-old woman with adult sporadic NIID presented with progressive corneal disease and neurological symptoms since age 22.
Ocular examination revealed bilateral punctate keratitis, corneal opacity, reduced vision, nocturnal lagophthalmos, and early retinal changes.
In vivo confocal microscopy showed corneal nerve fiber atrophy, and a Cochet-Bonnet aesthesiometer confirmed decreased corneal sensation.

Findings:

NIID can manifest as neurotrophic keratitis due to impaired corneal sensory nerves.
Nocturnal lagophthalmos was a significant ocular finding in this NIID case.
The patient showed gradual improvement in corneal epithelium irregularity and opacity with combined treatments.

Implications:

NIID presents complex neurological and ocular manifestations requiring a multidisciplinary management approach.
Early recognition of ocular symptoms like corneal defects and nocturnal lagophthalmos is crucial for NIID diagnosis in younger patients.
This case underscores the importance of considering NIID in young adults with unexplained progressive neuro-ophthalmological conditions.