Ciliopathies
Ciliopathies are disorders of organ-specific or systemic cilia dysfunction. Nonmotile cilia have a variety of specialized functions, such as cell signaling, detection of chemical gradients, and intracellular transport. Retinal involvement is frequent in ciliopathies because the junction between inner and outer segments of the photoreceptor cell is a modified nonmotile cilium. When a child has a retinopathy secondary to a systemic ciliopathy, the most common later organ dysfunction is renal. The possibility of systemic ciliopathy should be considered in all children with early-onset retinal dystrophy.
Systemic ciliopathies include Senior-Løken syndrome (retinopathy, later renal dysfunction), Bardet-Biedl syndrome (retinopathy, polydactyly [Fig 28-7], obesity, later renal dysfunction), Alström syndrome (retinopathy, cardiomyopathy, obesity, later renal dysfunction), and Joubert syndrome (retinopathy, oculomotor apraxia, developmental delay, characteristic magnetic resonance imaging [MRI] findings [Fig 28-8], later renal dysfunction).
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.