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Ophthalmology and Visual Sciences

Bardet-Biedl Syndrome

Bardet-Biedl Syndrome

Category(ies): Retina, Vitreous, Inherited Eye Disease
Contributor: Jesse M. Vislisel, MD
Photographer: Cindy Montague, CRA
Posted: October 17, 2013

Bardet-Biedl syndrome is an autosomal recessive condition most commonly due to a mutation in the BBS1 gene. It results in pigmentary retinopathy (usually pigment mottling without bone-spicule-like pigmentation) with macular atrophy and vascular attenuation as seen in these photos. The syndrome can be associated with systemic findings including ulnar polydactyly, obesity, mild developmental delay, and hypogonadism.