Renal-retinal syndromes: Association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

G. Caridi, L. Murer, R. Bellantuono, P. Sorino, D. A. Caringella, R. Gusmano, G. M. Ghiggeri

Research output: Contribution to journalArticle

Abstract

Tapeto-retinal degeneration is frequent in patients with nephronophthisis. Association of the most severe forms of tapeto-retinal dystrophy with NPH identifies a syndrome described first by Senior et al and Loken et al. This syndrome is distinct on molecular grounds from pure renal nephronophthisis (NPH1), which has its gene locus mapped on chromosome 2q13. We describe three families with large homozygous deletion of the NPH1 locus in which mild to moderate ocular lesions due to tapeto-retinal degeneration coexisted and were correlated to renal defects. This new association of NPH1 with retinal dystrophy is characterized by focal lesions of retina and is pauci-symptomatic in clinical presentation. For this reason it may remain unrecognized in most NPH1 patients.

Original languageEnglish
Pages (from-to)1059-1062
Number of pages4
JournalAmerican Journal of Kidney Diseases
Volume32
Issue number6
Publication statusPublished - 1998

Keywords

  • Nephronophthisis
  • NPH1 gene locus
  • Retinal dystrophy

ASJC Scopus subject areas

  • Nephrology

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