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Concentric retinitis pigmentosa: clinicopathologic correlations
A H Milam1, E B De Castro, J E Smith
1Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA. annmilam@mail.med.upenn.edu
Experimental Eye Research
|February 5, 2002
Summary
Concentric retinitis pigmentosa causes progressive vision loss from the eye
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Retinitis pigmentosa (RP) encompasses diverse genetic disorders.
- Concentric (centripetal) visual field loss is a recognized RP pattern.
- Clinicopathologic data for this specific RP phenotype are lacking.
Purpose of the Study:
- To establish clinicopathologic correlations for concentric retinitis pigmentosa (cRP).
- To characterize the phenotype and histopathology of autosomal dominant cRP.
Main Methods:
- Clinical examination and visual function testing of affected family members.
- Post-mortem histopathology and immunocytochemistry of an affected individual's eye.
- Examination of unrelated simplex/multiplex cRP patients.
Main Results:
- Patients exhibited peripheral pigmentary retinopathy, concentric visual field loss, and preserved central acuity.
- Histopathology revealed photoreceptor degeneration progressing from the periphery inward.
- A sharp demarcation line between affected and unaffected photoreceptors was observed.
Conclusions:
- Concentric retinitis pigmentosa is a distinct, slowly progressive phenotype.
- Photoreceptor degeneration is severe in the periphery with an abrupt transition zone.
- Defects in peripheral-to-central retinal molecules may influence disease progression.
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