Muhammad Ismail1, Fen Bao2, Mahmoud Elkhooly3
1Neurology, Minia University, 2Wayne State University, 3Neurology, Southern Illinois University
Objective:
Our objective was to identify the ocular manifestations in patients with IgLON5 disease.
Background:
IgLON5 disease is a rare autoimmune disorder that affects the central nerve system mainly in elderly population, and its diagnosis continues to present challenges. The clinical presentations in IgLON5 patients include heterogeneous, encompassing cognitive impairment and sleep disturbances; nonetheless, ocular involvement remains underreported.
Design/Methods:
Using PubMed and Google Scholar, a thorough literature analysis was performed to identify clinical studies conducted between January 1, 2010 and September 2025. Every study that reported ocular manifestations in IgLON5 patients was included in our analysis. The literature search was conducted according to the PRISMA guidelines, and multiple search keywords were utilized, including optic neuritis, optic neuropathy, Optic disc edema, Pursuit eye movements, saccadic eye movement, papillitis, Gaze palsy, nystagmus, IgLON5, anti-IgLON5 antibody.
Results:
Seven articles that discussed ocular manifestations in IgLON5 patients were found. Seven patients with IgLON5 disease reported in these articles were included in our analysis. The mean age of these seven patients was 61.7(±17.4) years. Six patients (85.7%) were male patients. Four patients (57.1%) presented with bilateral optic neuritis, while one with sixth nerve palsy, and one with limited horizontal pursuit eye movement. Additional symptoms included ataxia presented in three patients (42.9%) and cognitive impairment presented in four patients (57.1%). All patients had more than one clinical presentation. Six patients (85.7%) received at least one treatment, such as plasmapheresis, Intravenous immunoglobulin, or IV methyl prednisolone. Two patients (28.57%) experienced partial recovery, while five patients (71.43%) demonstrated complete recovery. Three patients (42.9%) were positive for cancer screening.
Conclusions:
Optic neuritis is not an uncommon presentation of IgLON5 patients and should be considered in atypical presentations. Diagnosis and treatment are crucial for patient health care.
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