Scheidecker, Sophie

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. [electronic resource] - American journal of ophthalmology Aug 2015 - 364-372.e1 p. digital

Publication Type: Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't

1879-1891

10.1016/j.ajo.2015.05.007 doi


Adult
Bardet-Biedl Syndrome--complications
DNA--genetics
DNA Mutational Analysis
Electroretinography
Eye Proteins--genetics
Female
Fluorescein Angiography
Fundus Oculi
Humans
Male
Middle Aged
Mutation
Phenotype
Retinal Cone Photoreceptor Cells--physiology
Retinal Degeneration--etiology
Retrospective Studies
Tomography, Optical Coherence
Visual Acuity
Visual Fields