Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome.

There is a great degree of heterogeneity of ophthalmologic and endocrinologic manifestations among patients with the Bardet-Biedl syndrome. The similarity of the atypical forms of retinitis pigmentosa and cone-rod degeneration indicates that definitive functional and electrophysical retinal work-ups should be performed on young patients with this syndrome. Since many cases of delayed puberty occur, the diagnosis of hypogonadism should be deferred until age 15. Segregation analysis on a large study of Bardet-Biedl syndrome in Switzerland differs from that expected with simple autosomal recessive inheritance. Excess affected males and deficient consanguinity are also documented. The occurrence of other family members with incomplete forms of the syndrome is noted in many reports in the literature. The authors propose that consideration be given to the hypothesis that the Bardet-Biedl syndrome may be transmitted by polygenic inheritance, since this would be compatible with features of the syndrome mentioned above.