Introduction: Neuro-metabolic diseases (NMDs) represent a heterogeneous group of hereditary pathologies, with phenotypic variability. Neuro-ophthalmological manifestations in these diseases are frequent, and can be seen at any stage of the disease. Therefore, their characterization is paramount in the diagnostic approach. Our aim was to describe the associations between neuro-ophthalmological manifestations and NMD. Methods: This was a retrospective descriptive study, conducted over a 19-year period between January 2004 and January 2023, at the Child and Adolescent Neurology Department of the National Institute of Neurology in Tunis. Patients with a confirmed diagnosis of NMD with ophthalmological manifestations relevant to their disease were included. Demographic, clinical, and paraclinical aspects were analyzed. Results: We included 63 patients (59 unrelated families). NMDs due to complex molecule metabolism were the most represented group. The most frequent neuro-ophthalmological manifestation was optic neuropathy. A significant association between optic nerve damage and the diagnosis of neuro-axonal dystrophy or mitochondriopathy was noted. Retinal involvement was associated with lipidosis and oligosaccaridosis. Corneal involvement was associated with mucopolysaccharidosis and Wilson's disease. Oculomotor disorders were associated with CDG syndrome. Nystagmus was associated with complex molecules. The neurovisual outcome was unfavorable for all patients except for those with treatable diseases. Conclusion: The collaboration between neurologists and ophthalmologists is essential both in the diagnostic approach and the multidisciplinary management of NMDs. This will reduce infantile morbidity and mortality and improve patients' quality of life.

Maha Jamoussi
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia

Hanene Benrhouma
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia

Thouraya Ben Younes
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia

Abir Zioudy
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia

Zouhour Miladi
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia

Hedia Klaa
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia

Ilhem Ben Youssef Turki
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia

Ichraf Kraoua
National Institute of Neurology Mongi Ben Hamida of Tunis
Tunisia