Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome.

Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, cognitive impairment, and atrioventricular septal defect) mutated in .

[Traumatic optic neuropathy: Report of 8 cases and review of the literature].

Although underestimated, visual involvement is among the most frequent neurological complications of head trauma. There is no consensus in the management of these patients and visual recovery is uncertain. The goal of our study is to describe the clinical presentation and the clinical course of traumatic optic neuropathy in patients with head or maxillo-facial trauma.