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Sector retinitis pigmentosa in juvenile nephronophthisis.

Abstract
In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The range of the retinal findings and their autosomal recessive transmission are discussed. Paucity of information makes it difficult to elucidate the basic genetic defect operating in this condition.
AuthorsV Godel, A Iaina, P Nemet, M Lazar
JournalThe British journal of ophthalmology (Br J Ophthalmol) Vol. 64 Issue 2 Pg. 124-6 (Feb 1980) ISSN: 0007-1161 [Print] England
PMID7362813 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Female
  • Genes, Recessive
  • Humans
  • Kidney Diseases (complications, genetics)
  • Pedigree
  • Retinitis Pigmentosa (etiology, genetics)

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