Renal-retinal syndromes: Association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
| Autor: | R. Bellantuono, Rosanna Gusmano, Gianluca Caridi, Palma Sorino, Luisa Murer, Gian Marco Ghiggeri, D. A. Caringella |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Locus (genetics) Senior–Løken syndrome Polymerase Chain Reaction Diagnosis Differential chemistry.chemical_compound Nephronophthisis Internal medicine medicine Humans In patient Child Polycystic Kidney Autosomal Recessive Retina Kidney business.industry Homozygote Retinal Degeneration Retinal Syndrome medicine.disease Pedigree medicine.anatomical_structure Endocrinology chemistry Nephrology Child Preschool Chromosomes Human Pair 2 Nephritis Interstitial Female Chromosome Deletion business Kidney disease |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0272-6386 |
| DOI: | 10.1016/s0272-6386(98)70083-6 |
| Popis: | 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. (Am J Kidney Dis 1998 Dec;32(6):1059-62) |
| Databáze: | OpenAIRE |
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