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Clinical Cases
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Bardet-Biedl Syndrome

Bardet-Biedl Syndrome - Start  
Bardet-Biedl Syndrome - End  

Bardet-Biedl syndrome is an autosomal recessive disease characterized by pigmentary retinopathy with macular involvement (bull´s eye), polydactyly, congenital obesity, hypogenitalism, mental retardation and renal abnormalities. Laurence-Moon was described a similar syndrome with spastic paraplegia and no polydactyly.

It manifests in infancy and one or more of the clinical signs may be absent, but sufferers always have retinal dystrophy with photophobia, and with a progressive decrease in visual acuity leading to severe visual loss in early adolescence.

Fundus findings range from a salt and pepper appearance to frank bone spicules, and macular changes with foveomacular hyperfluorescence on fluorescein angiography.

Clinical Cases 5 0