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Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects.

Riise, Ruth LU (1997)
Abstract (Swedish)
Popular Abstract in Swedish

Undersøkelsen omfatter 44 skandinaviske personer med Laurence-Moon-Bardet-Biedl syndrom. Disse personer hadde netthinne degenerasjon og minst ytterligere 2 av de øvrige tradisjonelle tegn på lidelsen: overvekt, overtallige fingre og tær, mangelfullt utviklede kjønnsorganer og nedsatt intelligens. Undersøkelsen viste at pasientene fikk nattblindhet og avtagende syn i barne- og ungdomsårene. Ved elektroretinografi fantes opphevet funksjon av netthinne-stavene hos alle, selv den yngste på 3 år. Øyelidelsen var en atypisk retinitis pigmentosa, hvor det kom forandringer sentralt i netthinnen før de typiske fargeavleiringer perifert. Fødselsvekt og -lengde var normal, men overvekt viste seg i de første... (More)
Popular Abstract in Swedish

Undersøkelsen omfatter 44 skandinaviske personer med Laurence-Moon-Bardet-Biedl syndrom. Disse personer hadde netthinne degenerasjon og minst ytterligere 2 av de øvrige tradisjonelle tegn på lidelsen: overvekt, overtallige fingre og tær, mangelfullt utviklede kjønnsorganer og nedsatt intelligens. Undersøkelsen viste at pasientene fikk nattblindhet og avtagende syn i barne- og ungdomsårene. Ved elektroretinografi fantes opphevet funksjon av netthinne-stavene hos alle, selv den yngste på 3 år. Øyelidelsen var en atypisk retinitis pigmentosa, hvor det kom forandringer sentralt i netthinnen før de typiske fargeavleiringer perifert. Fødselsvekt og -lengde var normal, men overvekt viste seg i de første barneårene. Voksenhøyde var lett redusert. I tillegg til ekstra fingre og tær var det korte, brede mellomhånds- og mellomfotsben og flate leddflater på hender og føtter. Det var økt forekomst av små eller manglende tenner og korte røtter. Mangelfullt utviklede kjønnsorganer fantes fortrinnsvis hos menn. De fleste deltagere hadde gode mentale ressurser. Hyppigste dødsårsak var nyrelidelse. Alle symptomene varierte både mellom familier og mellom affiserte søsken i 11 familier med 2-3 medlemmer med syndromet. Disse familiene deltok i et genetisk studie av 29 slike familier. Her fant man kopling til 3 av de 4 kjente områder for sykdommen på kromosom 11,15 og 16. Det var ingen kliniske forskjeller på familiene med genetisk kopling til de forskjellige kromosomene. Det forekom overlapping mellom undergruppene Laurence-Moon,Bardet-Biedl og Alström syndromer. Typiske tegn hos våre 44 Laurence-Moon-Bardet-Biedl pasienter var: netthinne degenerasjon, overvekt,utviklingsfeil av skjelett på henner og føtter,mangelfullt utviklede kjønnsorganer hos menn og nyrelidelse. (Less)
Abstract
The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. The study showed that the patients had an early onset of night blindness and a poor visual prognosis. No rod ERG-responses to dim blue light were found, even in the youngest-3 years old. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1. The fundus picture was an atypical retinitis pigmentosa with macular pigments previous to any bone spicules. Birth weight and -length were within normal limits, but... (More)
The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. The study showed that the patients had an early onset of night blindness and a poor visual prognosis. No rod ERG-responses to dim blue light were found, even in the youngest-3 years old. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1. The fundus picture was an atypical retinitis pigmentosa with macular pigments previous to any bone spicules. Birth weight and -length were within normal limits, but obesity appeared in early childhood and proceeded to profuse overweight during adolecence. Final height was slightly reduced. Typical skeletal anomalies were polydactyly, short and broad metacarpal bones and flat joint surfaces of the metacarpo- or metatarso-phalangeal joints. Hypogenitalism was noted in nearly all the men but only as an exception in the women. Most patients seemed to have good mental resources. Renal disease was a common cause of death. We found significantly higher frequencies of small or missing teeth and short roots compared to a control group. Substantial variation of the clinical signs was demonstrated both between families and between affected siblings in 11 families with 2-3 syndrome members. These families were included in a genetic study of 29 similar families where linkage was confirmed to the BBS1, BBS4 and BBS2 loci on chromosomes 11, 15 and 16. No clear clinical distinctions were apparent between the families linked to the different loci. Overlapping of clinical signs from the subgroups Laurence-Moon, Bardet-Biedl and Alström syndromes were observed within the same patient or family. The typical features in our Laurence-Moon-Bardet-Biedl syndrome patients were: retinal dystrophy, obesity, dental anomalies, skeletal anomalies of hands and feet, hypogenitalism in men and renal disease. (Less)
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author
opponent
  • Professor Warburg, Mette Warburg, Copenhagen
organization
publishing date
type
Thesis
publication status
published
subject
keywords
Laurence-Moon-Bardet-Biedl syndrome, Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping., Alström syndrome, Ophtalmology, Oftalmologi
pages
147 pages
publisher
Ruth Riise, Department of Ophthalmology, Central Hospital of Hedmark, N-2300 Hamar, Norway.,
defense location
Segerfalksalen, Wallenberg Neurocentrum, Sölvegaten 17, Lund.
defense date
1997-02-07 10:00
external identifiers
  • Other:ISRN: LUMEDW/MEVL-1016-SE
ISBN
91-628-2317-5
language
English
LU publication?
yes
id
e93b7503-d432-4295-9616-3a364bc4a639 (old id 28930)
date added to LUP
2007-06-11 12:24:25
date last changed
2016-09-19 08:45:07
@misc{e93b7503-d432-4295-9616-3a364bc4a639,
  abstract     = {The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. The study showed that the patients had an early onset of night blindness and a poor visual prognosis. No rod ERG-responses to dim blue light were found, even in the youngest-3 years old. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1. The fundus picture was an atypical retinitis pigmentosa with macular pigments previous to any bone spicules. Birth weight and -length were within normal limits, but obesity appeared in early childhood and proceeded to profuse overweight during adolecence. Final height was slightly reduced. Typical skeletal anomalies were polydactyly, short and broad metacarpal bones and flat joint surfaces of the metacarpo- or metatarso-phalangeal joints. Hypogenitalism was noted in nearly all the men but only as an exception in the women. Most patients seemed to have good mental resources. Renal disease was a common cause of death. We found significantly higher frequencies of small or missing teeth and short roots compared to a control group. Substantial variation of the clinical signs was demonstrated both between families and between affected siblings in 11 families with 2-3 syndrome members. These families were included in a genetic study of 29 similar families where linkage was confirmed to the BBS1, BBS4 and BBS2 loci on chromosomes 11, 15 and 16. No clear clinical distinctions were apparent between the families linked to the different loci. Overlapping of clinical signs from the subgroups Laurence-Moon, Bardet-Biedl and Alström syndromes were observed within the same patient or family. The typical features in our Laurence-Moon-Bardet-Biedl syndrome patients were: retinal dystrophy, obesity, dental anomalies, skeletal anomalies of hands and feet, hypogenitalism in men and renal disease.},
  author       = {Riise, Ruth},
  isbn         = {91-628-2317-5},
  keyword      = {Laurence-Moon-Bardet-Biedl syndrome,Bardet-Biedl syndrome. Retinal dystrophy. Retinitis Pigmentosa. Obesity. Dental anomalies. Skeletal anomalies. Hypogenitalism. Variation. Overlapping. Genetic linkage mapping.,Alström syndrome,Ophtalmology,Oftalmologi},
  language     = {eng},
  pages        = {147},
  publisher    = {ARRAY(0xaa954f8)},
  title        = {Laurence-Moon-Bardet-Biedl syndrome. Clinical,electrophysiological and genetic aspects.},
  year         = {1997},
}