Concentric retinitis pigmentosa: Clinicopathologic correlations

Progressive concentric (centripetal) loss of vision is one pattern of visua l field loss in retinitis pigmentosa. This study provides the first clinico pathologic correlations for this form of retinitis pigmentosa. A family wit h autosomal dominant concentric retinitis pigmentosa was examined clinicall y and with visual function tests. A post-mortem eye of an affected 94 year old family member was processed for histopathology and immunocytochemistry with retinal cell specific antibodies. Unrelated simplex/multiplex patients with concentric retinitis pigmentosa were also examined. Affected family m embers of the eye donor and patients from the other families had prominent peripheral pigmentary retinopathy with more normal appearing central retina , good visual acuity, concentric field loss, normal or near normal rod and cone sensitivity within the preserved visual field, and reduced rod and con e electroretinograms. The eye donor, at age 90, had good acuity and functio n in a central island. Grossly, the central region of the donor retina appe ared thinned but otherwise normal, while the far periphery contained heavy bone spicule pigment. Microscopically the central retina showed photorecept or outer segment shortening and some photoreceptor cell loss. The mid perip hery had a sharp line of demarcation where more central photoreceptors were near normal except for very short outer segments and peripheral photorecep tors were absent. Rods and cones showed abrupt loss of outer segments and c ell death at this interface. It is concluded that concentric retinitis pigm entosa is a rare but recognizable phenotype with slowly progressive photore ceptor death from the far periphery toward the central retina. The disease is retina-wide but shows regional variation in severity of degeneration; ph otoreceptor death is severe in the peripheral retina with an abrupt edge be tween viable and degenerate photoreceptors. Peripheral to central gradients of unknown retinal molecule(s) may be defective or modify photoreceptor de generation in concentric retinitis pigmentosa. (C) 2001 Academic Press.