An 8-year-old boy presented with bilateral visual loss and an increasing exotropia, and later developed deteriorating school performance. Magnetic resonance imaging of the head showed bilateral, symmetric, T2, and FLAIR white matter abnormalities in the parieto-occipital regions. Elevated serum very long chain fatty acids confirmed the diagnosis of X-linked adrenoleukodystrophy. Ophthalmologists should be aware of the diagnosis in boys with visual loss, hyperactivity, behavioral changes, and deterioration in school performance. Visual loss may be the presenting or predominant feature in X-linked adrenoleukodystrophy.
- visual loss
- X-linked adrenoleukodystrophy
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