Mahesh Shivanna, Manisha Anand, Subhabrata Chakrabarti and Hemant Khanna* Pages 3120 - 3131 ( 12 )
Developing suitable medicines for genetic diseases requires a detailed understanding of not only the pathways that cause the disease, but also the identification of the genetic components involved in disease manifestation. This article focuses on the complexities associated with ocular ciliopathies – a class of debilitating disorders of the eye caused by ciliary dysfunction. Ciliated cell types have been identified in both the anterior and posterior segments of the eye. Photoreceptors (rods and cones) are the most studied ciliated neurons in the retina, which is located in the posterior eye. The photoreceptors contain a specialized lightsensing outer segment, or cilium. Any defects in the development or maintenance of the outer segment can result in severe retinal ciliopathies, such as retinitis pigmentosa and Leber congenital amaurosis. A role of cilia in the cell types involved in regulating aqueous fluid outflow in the anterior segment of the eye has also been recognized. Defects in these cell types are frequently associated with some forms of glaucoma. Here, we will discuss the significance of understanding the genetic heterogeneity and the pathogenesis of ocular ciliopathies to develop suitable treatment strategies for these blinding disorders.
Leber congenital amaurosis, photoreceptors, genetic diseases, ocular ciliopathies, photoreceptors, posterior eye, congenital amaurosis.
School of Optometry, Massachusetts College of Pharmacy and Health Sciences University, Worcester, MA, UMASS Medical School, Worcester, MA 01605, Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Hyderabad, UMASS Medical School, Worcester, MA 01605