Journal article
Concentric Retinitis Pigmentosa: Clinicopathologic Correlations
Experimental Eye Research, Vol.73(4), pp.493-508
10/2001
DOI: 10.1006/exer.2001.1059
PMID: 11825021
Abstract
Progressive concentric (centripetal) loss of vision is one pattern of visual field loss in retinitis pigmentosa. This study provides the first clinicopathologic correlations for this form of retinitis pigmentosa. A family with autosomal dominant concentric retinitis pigmentosa was examined clinically 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 members 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 cone electroretinograms. The eye donor, at age 90, had good acuity and function in a central island. Grossly, the central region of the donor retina appeared thinned but otherwise normal, while the far periphery contained heavy bone spicule pigment. Microscopically the central retina showed photoreceptor outer segment shortening and some photoreceptor cell loss. The mid periphery had a sharp line of demarcation where more central photoreceptors were near normal except for very short outer segments and peripheral photoreceptors were absent. Rods and cones showed abrupt loss of outer segments and cell death at this interface. It is concluded that concentric retinitis pigmentosa is a rare but recognizable phenotype with slowly progressive photoreceptor death from the far periphery toward the central retina. The disease is retina-wide but shows regional variation in severity of degeneration; photoreceptor death is severe in the peripheral retina with an abrupt edge between viable and degenerate photoreceptors. Peripheral to central gradients of unknown retinal molecule(s) may be defective or modify photoreceptor degeneration in concentric retinitis pigmentosa.
Details
- Title: Subtitle
- Concentric Retinitis Pigmentosa: Clinicopathologic Correlations
- Creators
- Ann H Milam - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, 19104, U.S.AElaine B De Castro - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, 19104, U.S.AJulie E Smith - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, 19104, U.S.AWai-Xing Tang - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, 19104, U.S.ASinoj K John - University of PennsylvaniaMichael B Gorin - Departments of Ophthalmology and Human Genetics, University of Pittsburgh, Pittsburgh, PA, 15213, U.S.AEdwin M Stone - Department of Ophthalmology and Visual Science, University of Iowa Hospital and Clinics, Iowa City, IA, 52243, U.S.AGustavo D Aguirre - James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, New York, NY, 14853, U.S.ASamuel G Jacobson - Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, 19104, U.S.A
- Resource Type
- Journal article
- Publication Details
- Experimental Eye Research, Vol.73(4), pp.493-508
- DOI
- 10.1006/exer.2001.1059
- PMID
- 11825021
- NLM abbreviation
- Exp Eye Res
- ISSN
- 0014-4835
- eISSN
- 1096-0007
- Publisher
- Elsevier Ltd
- Language
- English
- Date published
- 10/2001
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980290102771
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