2020–2021 BCSC Basic and Clinical Science Course™
12 Retina and Vitreous
Part II: Disorders of the Retina and Vitreous
Chapter 14: Retinal Degenerations Associated With Systemic Disease
Retinal Degeneration With Systemic Involvement
Bardet-Biedl Syndrome
Bardet-Biedl syndrome comprises several different diseases with a similar constellation of findings, including pigmentary retinopathy (with or without pigment deposits), obesity, polydactyly, hypogonadism, and cognitive disability. Patients with Bardet-Biedl syndrome typically demonstrate a severe but variable form of rod–cone dystrophy, usually sine pigmento, with a bull’s-eye atrophic maculopathy (Fig 14-1). These disorders were previously classified as autosomal recessive, but molecular studies strongly suggest that many are multigenic, with 2 or even 3 different mutations contributing to the phenotype. Increasing evidence suggests that the primary functions of the proteins affected in Bardet-Biedl syndrome are to mediate and regulate microtubule-based intracellular transport processes.
Table 14-1 Selected Systemic Diseases With Pigmentary Retinopathies
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.