Sveinsson Chorioretinal Atrophy/Helicoid Peripapillary Chorioretinal Degeneration

Purpose To report the histopathologic features in an eye with Sveinsson chorioretinal atrophy (SCRA), also termed helicoid peripapillary chorioretinal degeneration , for the first time. Participant An 82-year-old woman clinically and genetically confirmed to have SCRA. Design Examination of an eye obtained after death. Method Light microscopic examination of an eye of an 82-year-old woman documented to have SCRA since the age of 10 years. Main Outcome Measure The findings in ocular tissues were determined by light microscopy. Results In the most advanced areas of chorioretinal atrophy, the sensory retina, retinal pigment epithelium (RPE), choriocapillaris, and choroid were absent. In the transition between affected and unaffected areas, the RPE and the outer segments of the photoreceptors only were affected. The optic nerve was smaller than normal, but well myelinated. Other ocular tissues retained a relatively normal appearance for a patient who had died at this age. Conclusions The mildest and presumably earliest morphologic changes involved the photoreceptor outer segments, the RPE, and choriocapillaris in this progressive degenerative disease of the retina and choroid.