Segmental Optic Atrophy with Adrenoleukodystrophy ABCD1 Gene Variant

We report a case of Adrenoleukodystrophy ABCD1 gene variant presenting with segmental optic atrophy in a 34-year-old male.

The patient presented to our Neuro-Ophthalmology clinic with complaints of defective vision in both eyes, mild headache and gait disturbances. Ocular examination showed best corrected visual acuity of 6/24 in both eyes and fundus examination revealed temporal pallor of optic disc. Systemic examination revealed spastic paraparesis. Neuroimaging was advised which revealed well defined confluent symmetric bilateral T2/FLAIR hyperintense areas in parietal-occipital deep white matter and in the splenium of the corpus callosum, acoustic and optic radiations bilaterally. Genetic testing was positive for ABCD1 c.1966T>C (p.Ser656Pro) gene variant.

 X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease characterized by genetic mutation of the ABCD1 gene, primarily affecting males. Our patient presented with defective vision and walking problem due to Adrenoleukodystrophy ABCD1 gene variant. Ocular symptoms often occur after the systemic abnormalities are noted.