Genetic and Developmental Fundus Diseases

Abstract

Retinitis pigmentosa (RP) is a progressive, hereditary, dystrophic degenerative disease that manifests as chronic progressive visual field loss and nyctalopia. The fundus manifestations such as sponge spicule pattern of intraretinal pigment located in the mid-peripheral retina, retinal arteriolar attenuation, and waxy pallor of the optic disc, which may eventually lead to severe vision loss. In SS-OCT, the typical changes are atrophy and thinning of the outer retina, loss of the ellipsoid zone (photoreceptor cell layer), usually beginning in the mid-periphery and then extending into the central retina, and macular cystic change in some patients. Since the lesions are mostly of peripheral origin and mainly affect the outer retinal layers, with secondary choroidal superficial vascular changes, wide-field SS-OCT and SS-OCTA can detect abnormalities at the early stage of the lesions (Figs. 12.1 and 12.2), which is useful for follow-up.