Bardet-Biedl Syndrome

Bardet-Biedl Syndrome

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.