Publications by authors named "Rosalie M Nolen"
Ophthalmic Genet
October 2020
Article Synopsis
- - Usher syndrome is characterized by hearing loss, rod-cone dystrophy, and often vestibular dysfunction, with three clinical subtypes identified since the late 1970s.
- - Recent genetic studies have uncovered several associated genes and have documented "atypical" presentations of Usher syndrome that diverge from the classic symptoms.
- - The manuscript reviews the molecular causes of Usher syndrome, noting the variability in clinical presentations, and suggests guidelines for a clearer naming system for these atypical cases.
