The X factor.

Area of Science:

• Neuro-ophthalmology
• Neurology
• Genetics

Background:

• X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting the nervous system and adrenal glands.
• Female carriers of X-ALD can exhibit variable clinical manifestations, often milder than affected males.
• Distinguishing X-ALD carriers from other neurological conditions like multiple sclerosis is crucial for accurate diagnosis and management.

Observation:

• A 45-year-old woman presented with progressive, painless peripheral vision loss.
• Clinical examination revealed bilateral optic atrophy.
• Brain MRI demonstrated nonenhancing multifocal white matter lesions.
• Cerebrospinal fluid analysis indicated elevated myelin basic protein levels.

Findings:

• The patient was diagnosed with the carrier state of X-linked adrenoleukodystrophy.
• The clinical and radiographic findings mimicked those of multiple sclerosis.
• This represents the first reported case of bilateral optic atrophy in a female X-ALD carrier in English ophthalmic literature.

Implications:

• Bilateral optic atrophy should be considered in the differential diagnosis of female carriers presenting with visual disturbances and white matter lesions.
• Early identification of X-ALD carriers is essential for genetic counseling and potential future therapeutic interventions.
• This case expands the understanding of the phenotypic spectrum of X-ALD in female carriers.