Peripheral neuropathy may be a symptom of autosomal dominant optic atrophy and cataract “plus”

Takeaway

  • Genetic screening of OPA3 mutations should be part of the differential diagnosis of peripheral neuropathy (PN), even in the absence of optic atrophy.

Why this matters

  • Patients with autosomal dominant optic atrophy and cataract (ADOAC/+) syndrome may be asymptomatic or could develop severe or disabling PN long after the onset of ophthalmologic issues.