Bardet-Biedl syndrome (BBS) is a hereditary autosomal-recessive disorder, characterized by mental retardation, obesity, pigmentary retinopathy, polydactyly and, only in males, hypogenitalism. Even though genetic studies have revealed five different forms of BBS correlated to distinct loci on different chromosomes, a diagnosis of BBS is still primarily based on clinical data. The present study discusses the evolution of clinical ophthalmological and electrophysiological characteristics of BBS patients in developmental age. The main results obtained on a sample of 13 pediatric patients are the following: * progressive loss of visual acuity arised early in the first decade of life * ophthalmoscopic signs of pigmentary retinopathy were present only in 46% of the children studied * striking anomalies in the electroretinogram were also detected in the cases without pigmentary retinopathy * the electroretinographic results, when detectable, suggested a greater involvement of the photopic system as against the scotopic system.

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome

Borgatti R;
1999-01-01

Abstract

Bardet-Biedl syndrome (BBS) is a hereditary autosomal-recessive disorder, characterized by mental retardation, obesity, pigmentary retinopathy, polydactyly and, only in males, hypogenitalism. Even though genetic studies have revealed five different forms of BBS correlated to distinct loci on different chromosomes, a diagnosis of BBS is still primarily based on clinical data. The present study discusses the evolution of clinical ophthalmological and electrophysiological characteristics of BBS patients in developmental age. The main results obtained on a sample of 13 pediatric patients are the following: * progressive loss of visual acuity arised early in the first decade of life * ophthalmoscopic signs of pigmentary retinopathy were present only in 46% of the children studied * striking anomalies in the electroretinogram were also detected in the cases without pigmentary retinopathy * the electroretinographic results, when detectable, suggested a greater involvement of the photopic system as against the scotopic system.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1373376
Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 13
  • ???jsp.display-item.citation.isi??? ND
social impact