Retinal Degeneration with Coats-Like Fundus

Abstract

Abstract A 22-year-old man presented as a second opinion for intermediate uveitis and macular edema. Vision was 20/100 both eyes (OU) and intraocular pressure (IOP) was 35 right eye (OD) and 40 left eye (OS). His primary ophthalmologist noted that his disease did not respond to high-dose prednisone or intravitreal triamcinolone injections. Examination showed 1+ cells in the anterior vitreous but no vitreous haze or snowballs and no anterior chamber reaction. Fundus examination was notable for diffuse pigmentary changes and exudates in the temporal periphery OU. Optical coherence tomography (OCT) showed highly abnormal retinal laminations with thickening of the inner retina, outer foveal loss, and no frank cystoid spaces. This sort of presentation in a young person is highly suspicious for an inherited retinal degeneration masquerading as uveitis. Electroretinogram confirmed profound photoreceptor dysfunction, and genetic testing showed balletic mutations in the CRB1 gene. This genotype can present with a Coats-like vasculopathy as one of its phenotypes.