Retinal Ganglion Cell Loss in X-linked Adrenoleukodystrophy with an Mutation (Gly266Arg).

The authors here report a single case of a 10-year-old male patient who presented with severe vision loss associated with progressive demyelination. The patient was diagnosed with X-linked childhood cerebral adrenoleukodystrophy (ALD). Genetic analysis demonstrated a missense mutation (Gly266Arg) in exon 1 of the gene.