High-Resolution Images of Retinal Structure in Patients with Choroideremia

• Published in: Investigative ophthalmology & visual science Vol. 54; no. 2; pp. 950 - 961
• Main Authors: 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., Duncan, Jacque L.
• Format: Journal Article
• Language: English
• Published: United States The Association for Research in Vision and Ophthalmology 01.02.2013
• Subjects: 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

To study retinal structure in choroideremia patients and carriers using high-resolution imaging techniques. Subjects from four families (six female carriers and five affected males) with choroideremia (CHM) were characterized with best-corrected visual acuity (BCVA), kinetic and static perimetry, fu...