Clinical and histopathologic findings in clumped pigmentary retinal degeneration
K. W. To, M. Adamian, F. A. Jakobiec and E. L. Berson
Berman-Gund Laboratory for the study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Boston, USA.
OBJECTIVE: To describe the clinical and histopathologic features of clumped
pigmentary retinal degeneration (CPRD). DESIGN: Retrospective case series.
SETTING: Tertiary referral center. PATIENTS: 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. MAIN OUTCOME MEASURES: 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. CONCLUSION: Based on the distinct clinical and histopathologic
appearance, CPRD should be considered as a separate form of retinal
degeneration.
