Histopathologic study of an unusual form of retinitis pigmentosa

An ultrastructural study was done on a postmortem donor eye from an 84-year-old male with night blindness, pericentral ring scotomas, attenuated retinal arterioles, and intraretinal bone spicule pigmentation distributed around the midperiphery. Unusual findings observed 3 years prior to death were preserved central vision and peripheral visual field and rod and cone electroretinogram amplitudes reduced only about 60% below normal. Ultrastructural examination of the retina revealed apparently normal numbers of cones in the fovea, reduced numbers of rods on the foveal slope, absence of photoreceptors in the midperiphery, and large areas of preserved rods and cones in the far periphery in all quadrants. Other conspicuous findings were the presence of autophagic vacuoles in remaining cones and nonpigmented epithelial cells around some retinal vessels in the midperiphery. Comparison of visual acuities, visual fields, and fundus appearance reported at age 54 and at age 81, combined with ultrastructural observations of the retina at age 84, suggested that this patient's condition was minimally, if at all, progressive over the last 30 years of his life. Classification of this disease as pericentral retinitis pigmentosa is considered.