High-Resolution Images of Retinal Structure in Patients with Choroideremia - Syed, Reema; Sundquist, Sanna M.; Ratnam, Kavitha; Zayit-Soudry, Shiri; Zhang, Yuhua; Crawford, J. Brooks; MacDonald, Ian M.; Godara, Pooja; Rha, Jungtae; Carroll, Joseph; Roorda, Austin; Stepien, Kimberly E.; et al. (Investigative ophthalmology & visual science, 2013)
Keywords: Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Adolescent; Adult; Aged; Choroideremia - genetics; Choroideremia - metabolism; Choroideremia - pathology; DNA - genetics; Female; Fluorescein Angiography - methods; Fundus Oculi; Genetic Predisposition to Disease; Humans; Image Processing, Computer-Assisted - methods; Male; Middle Aged; Mutation; Ophthalmoscopy - methods; Pedigree; Phenotype; Polymerase Chain Reaction; Protein Prenylation; Retinal Cone Photoreceptor Cells - pathology; Tomography, Optical Coherence - methods; Young Adult