Contributor: Jesse Vislisel, MD
Photographer: Cindy Montague, CRA
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.
Ophthalmic Atlas Images by EyeRounds.org, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.