Genetic isolate and preserved para-arteriole retinal pigment epithelium

Andrea Piantanida, Paolo Nucci, Rosario Brancato

Research output: Contribution to journalArticle

Abstract

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'.

Original languageEnglish
Pages (from-to)95-98
Number of pages4
JournalOphthalmic Genetics
Volume15
Issue number2
DOIs
Publication statusPublished - 1994

Keywords

  • Genetic isolate
  • Hyperopia
  • Preserved para-arteriole retinal pigment epithelium (PPRPE)
  • Retinal pigment epithelium (RPE)
  • Retinitis pigmentosa (RP)

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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