Br J Ophthalmol 1997;81:378-385 ( May )

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

Ruth Riise,^a Sten Andréasson,^b Margareta K Borgström,^c Alan F Wright,^d Niels Tommerup,^e Thomas Rosenberg,^f Kristina Tornqvist^b

^a Department of Ophthalmology, Central Hospital of Hedmark, Hamar, Norway, ^b Department of Ophthalmology, University Hospital of Lund, Sweden, ^c Department of Pedodontics, School of Dentistry, Malmö, University of Lund, Sweden, ^d MRC, Human Genetics Unit, Western General Hospital, Edinburgh, UK, ^e Department of Medical Genetics, The John F Kennedy Institute, Glostrup, Denmark, ^f National Eye Clinic for the Visually Impaired, Copenhagen, Denmark

Correspondence to: Dr Ruth Riise, Department of Ophthalmology, Central Hospital of Hedmark, N-2300 Hamar, Norway.

Accepted for publication 13 January 1997

AIMSTo describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome.
METHODSThe phenotypes of affected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded.
RESULTSIntrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the affected siblings in two of the families, but the clinical features in these patients did not differ from the other cases of Bardet-Biedl syndrome.
CONCLUSIONComparison of siblings with the Bardet-Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients.

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© 1997 by British Journal of Ophthalmology
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