Literature DB >> 8694730

Clinical and histopathologic findings in clumped pigmentary retinal degeneration.

K W To1, M Adamian, F A Jakobiec, E L Berson.   

Abstract

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.

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Mesh:

Year:  1996        PMID: 8694730     DOI: 10.1001/archopht.1996.01100140158008

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  5 in total

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Authors:  Leila El Matri; Aude Ambresin; Daniel F Schorderet; Aki Kawasaki; Mathias W Seeliger; Andreas Wenzel; Yvan Arsenijevic; François-Xavier Borruat; Francis L Munier
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2006-02-28       Impact factor: 3.117

2.  Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Authors:  Koji M Nishiguchi; James S Friedman; Michael A Sandberg; Anand Swaroop; Eliot L Berson; Thaddeus P Dryja
Journal:  Proc Natl Acad Sci U S A       Date:  2004-12-09       Impact factor: 11.205

3.  The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes.

Authors:  Jichao Chen; Amir Rattner; Jeremy Nathans
Journal:  J Neurosci       Date:  2005-01-05       Impact factor: 6.167

4.  Expanded clinical spectrum of enhanced S-cone syndrome.

Authors:  Suzanne Yzer; Irene Barbazetto; Rando Allikmets; Mary J van Schooneveld; Arthur Bergen; Stephen H Tsang; Samuel G Jacobson; Lawrence A Yannuzzi
Journal:  JAMA Ophthalmol       Date:  2013-10       Impact factor: 7.389

5.  Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Authors:  Saoud Al-Khuzaei; Suzanne Broadgate; Stephanie Halford; Jasleen K Jolly; Morag Shanks; Penny Clouston; Susan M Downes
Journal:  Genes (Basel)       Date:  2020-10-29       Impact factor: 4.096

  5 in total

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