Bilateral optic disc pits in a pediatric patient with Cobb s
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Cobb syndrome, or cutaneomeningospinal angiomatosis, is a rare congenital condition characterized by cutaneous vascular lesions associated with dermatomal spinal arteriovenous malformations (AVMs) or other vascular anomalies. Although not thought to be an inherited neurocutaneous condition, the prevalence, pathophysiology, genetics, diagnostic criteria, management, and prognosis of the disease remain poorly described.

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.

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 exams for the detection of subclinical optic nerve abnormalities.

Source: https://www.sciencedirect.com/science/article/pii/S2451993620301006
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