Abstract
Purpose :
To describe a novel ocular association, bilateral optic nerve pits, in a patient with Cobb Syndrome, a rare congenital disorder characterized by cutaneous vascular lesions and spinal arteriovenous malformations.
Methods :
A case report is described of a 15-year-old boy diagnosed with Cobb Syndrome who was found on screening ophthalmologic exam to have bilateral optic disc pits. Evaluation included full ophthalmologic exam, fundus photography, and SD-OCT imaging of the macula and optic discs. Medical history was assembled from the coordinating neurology and hematology services, and surgical history was reviewed with the treating pediatric orthopedic surgeon. A review of the literature in Cobb syndrome and its known associated findings was performed.
Results :
Cobb syndrome (cutaneomeningospinal angiomatosis) is a rare congenital condition of cutaneous vascular lesions (neveus flammeus) associated with dermatomal spinal arteriovenous malformations (AVMs), typically presenting in late childhood. This patient, a 15-year old boy with Cobb syndrome, presented for screening ophthalmologic exam. He used a wheelchair and had a typical violaceous angiomatous skin lesion on his left back, with a history of left paraspinous AVMs, demonstrated as non-enhancing voids on MRI. He developed spontaneous myelopathy and severe thoracic scoliosis in the first decade of life, requiring multiple spinal fusion surgeries. He had no visual symptoms. On ophthalmic examination, visual acuity was 20/20 in each eye. Pupils, ocular motility, intraocular pressure and confrontation visual fields were normal, as was the anterior segment exam. Dilated fundus exam revealed a grey optic pit lesion of the left optic disc, and otherwise the retina exam appeared normal in both eyes. SD-OCT revealed optic disc pits in both eyes, with deeply excavations and hyporeflective cavities within the nerve head. The macular OCT was normal in each eye with good foveal contours and no serous subretinal fluid. No treatment was indicated, and an annual ophthalmologic exam was recommended.
Conclusions :
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.
This is a 2020 ARVO Annual Meeting abstract.