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

E. Spaggiari, R. Salati, P. Nicolini, R. Borgatti, U. Pozzoli, F. Polenghi

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)61-67
Number of pages7
JournalInternational Ophthalmology
Volume23
Issue number2
DOIs
Publication statusPublished - 1999

Fingerprint

Bardet-Biedl Syndrome
Pediatrics
Retinitis Pigmentosa
Polydactyly
Visual Acuity
Obesity
Chromosomes

Keywords

  • Bardet-Biedl syndrome
  • ERG
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. / Spaggiari, E.; Salati, R.; Nicolini, P.; Borgatti, R.; Pozzoli, U.; Polenghi, F.

In: International Ophthalmology, Vol. 23, No. 2, 1999, p. 61-67.

Research output: Contribution to journalArticle

@article{10bdcc2a189f4a3991c1e1328f8b9a04,
title = "Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome",
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.",
keywords = "Bardet-Biedl syndrome, ERG, Retinitis pigmentosa",
author = "E. Spaggiari and R. Salati and P. Nicolini and R. Borgatti and U. Pozzoli and F. Polenghi",
year = "1999",
doi = "10.1023/A:1026560721525",
language = "English",
volume = "23",
pages = "61--67",
journal = "International Ophthalmology",
issn = "0165-5701",
publisher = "Springer Netherlands",
number = "2",

}

TY - JOUR

T1 - Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome

AU - Spaggiari, E.

AU - Salati, R.

AU - Nicolini, P.

AU - Borgatti, R.

AU - Pozzoli, U.

AU - Polenghi, F.

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

KW - Bardet-Biedl syndrome

KW - ERG

KW - Retinitis pigmentosa

UR - http://www.scopus.com/inward/record.url?scp=0033285944&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033285944&partnerID=8YFLogxK

U2 - 10.1023/A:1026560721525

DO - 10.1023/A:1026560721525

M3 - Article

VL - 23

SP - 61

EP - 67

JO - International Ophthalmology

JF - International Ophthalmology

SN - 0165-5701

IS - 2

ER -