second case of Bardet-Biedl Syndrome associated with Keratoconus

Corneal ectasia is a group of progressive disorders characterized by thinning and protrusion of the cornea, which includes conditions such as keratoconus, keratoglobus, and pellucid marginal degeneration. Bardet-Biedl syndrome, a rare autosomal recessive genetic disorder, is primarily recognized for its hallmark features, including retinal degeneration leading to progressive vision loss, obesity, polydactyly, and various systemic abnormalities. While ocular manifestations are well-documented in Bardet-Biedl syndrome, the association with corneal ectasia, particularly keratoconus, is exceptionally rare. The first documented case of keratoconus in a patient with Bardet-Biedl syndrome was reported by François et al. in 1982. This book highlights the second known case of Bardet-Biedl syndrome associated with keratoconus, shedding new light on the potential systemic involvement of corneal ectasia in this syndrome. In addition, this book explores the latest evidence-based therapies for managing ocular abnormalities in Bardet-Biedl syndrome patients, including advancements in retinitis pigmentosa treatment.