Sveinsson chorioretinal atrophy (SCRA)

Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically by bilateral, well defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress throughout life, sometimes leading to central visual loss. Clinical findings suggest that the expansion of the degenerative lesions is caused by dysplastic abnormalities of the peripapillary retinal pigment epithelium (RPE) and the mechanical tearing of the RPE layer owing to the growth of the globe. Patients with SCRA have a mutation in the TEAD1 gene.