Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome.
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.
Spaggiari
E
E
Department of Pediatric Ophthalmology, Scientific Institute E. Medea Bosisio Parini (Lc), Italy.
Salati
R
R
Nicolini
P
P
Borgatti
R
R
Pozzoli
U
U
Polenghi
F
F
D020788:Bardet-Biedl Syndrome / Q000175:diagnosis / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005133:Eye Movements; D005260:Female; D006801:Humans; D008297:Male; D011379:Prognosis; D012160:Retina / Q000502:physiology*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000503:physiopathology*; D014792:Visual Acuity; D014794:Visual Fields