UCSF

Purpose

To describe a patient with Cobb Syndrome, a rare congenital disorder characterized by cutaneous and spinal arteriovenous malformations, who was found to have bilateral optic nerve pits.

Observations

A 15-year-old boy diagnosed with Cobb Syndrome, manifesting as a large cutaneous port-wine stain associated with an underlying left paraspinous arteriovenous malformation resulting in severe scoliosis, presented for a screening ophthalmological exam. The patient had no visual symptoms. On examination, his visual acuity was 20/20 in each eye; however, bilateral optic disc pits were discovered on biomicroscopy and confirmed by spectral-domain optical coherence tomography.

Conclusion and importance

The unusual finding of bilateral optic disc pits in this rare congenital neurocutaneous disorder represents the first report of ophthalmic abnormalities in association with Cobb syndrome. Patients with Cobb Syndrome may be considered for screening ophthalmological exam for the detection of subclinical optic nerve abnormalities.