Clinical and histopathologic findings in clumped pigmentary retinal degeneration.
OBJECTIVE
To describe the clinical and histopathologic features of clumped pigmentary retinal degeneration (CPRD).


METHODS
Retrospective case series.


METHODS
Tertiary referral center.


METHODS
Twenty-four patients, aged 7 to 83 years, were identified from the medical record filed of the Berman-Gund Laboratory, Boston, Mass, as having the clinical features of CPRD. The autopsy eye from a 56-year-old man with CPRD was studied with light and electron microscopy.


METHODS
Visual acuities, visual fields, dark-adaptation thresholds, and results of electroretinograms; histopathologic study of an autopsy eye.


RESULTS
The functional deficit of patients with CPRD seems to be similar to that of patients with typical retinitis pigmentosa. Different degrees of severity were observed among patients of similar age. The histopathologic data showed that the clinically distinct areas of clumped pigment are due to excessive accumulation of melanin granules in retinal pigment epithelial cells.


CONCLUSIONS
Based on the distinct clinical and histopathologic appearance, CPRD should be considered as a separate form of retinal degeneration.
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Berman-Gund Laboratory for the study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Boston, USA.
Adamian
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Jakobiec
F A
FA
Berson
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EL
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D010857:Pigment Epithelium of Eye / Q000648:ultrastructure; D012160:Retina / Q000648:ultrastructure; D012162:Retinal Degeneration / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000473:pathology*; D012189:Retrospective Studies; D014792:Visual Acuity; D014794:Visual Fields