Preserved para-arteriole retinal pigment epithelium (PPRPE) is an uncommon form of retinitis pigmentosa, with a very peculiar funduscopic appearance. To our knowledge no patient under age ten, affected by PPRPE, has been reported in the literature. The authors present here a seven-year-old boy, whose fundus examination is consistent with the diagnosis of PPRPE. The case report confirms that PPRPE starts early in childhood, and additionally supports the hypothesis of an autosomal recessive inheritance of this condition, since the proband's family lives in a 'genetic isolate'.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/13816819409098869 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Selected pigmented fundus lesions of children.
J AAPOS
August 2005
Midwest Eye Institute and Indiana University School of Medicine, Indianapolis, Indiana, USA.
Background: Ocular cells that accumulate melanin pigment are derived from 1 of 2 sources, the optic vesicle or the neural crest. Migration and distribution of pigment containing cells may go awry during fetal development or these cells may be altered before or after birth either by local or systemic stimuli. Specific recognition patterns of pigment distribution often exist and may relate directly to a single disease process.
View Article and Find Full Text PDFGenetic isolate and preserved para-arteriole retinal pigment epithelium.
Ophthalmic Genet
June 1994
Department of Ophthalmology and Visual Sciences, Scientific Institute S. Raffaele Hospital, University of Milan, Italy.
Preserved para-arteriole retinal pigment epithelium (PPRPE) is an uncommon form of retinitis pigmentosa, with a very peculiar funduscopic appearance. To our knowledge no patient under age ten, affected by PPRPE, has been reported in the literature. The authors present here a seven-year-old boy, whose fundus examination is consistent with the diagnosis of PPRPE.
View Article and Find Full Text PDFEarly-onset autosomal dominant retinitis pigmentosa with severe hyperopia.
Am J Ophthalmol
April 1991
Department of Ophthalmology, University of Iowa, Iowa City.
We studied a four-generation family with early-onset autosomal dominant retinitis pigmentosa, severe hyperopia, and axial eye lengths of less than 20 mm. The affected members had decreased vision, night blindness, typical peripheral retinal pigmentary changes, and electroretinographic abnormalities characteristic of retinitis pigmentosa. This pedigree suggests there is another variant of retinitis pigmentosa associated with hyperopia besides Leber's congenital amaurosis and preserved para-arteriole retinal pigment epithelium.
View Article and Find Full Text PDFPreserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.
Birth Defects Orig Artic Ser
February 1983
Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.
Br J Ophthalmol
January 1982
Five patients with retinitis pigmentosa (RP) with probable autosomal recessive inheritance have been identified in whom there is relative preservation of retinal pigment epithelium adjacent to and under retinal arterioles despite a panretinal degenerative process. All the patients were hypermetropic, though patients with RP tend to be myopic. This implies that there is a factor associated with retinal arterioles which locally retards the RP process in these patients.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!