High-resolution images of retinal structure in patients with choroideremia. Invest Ophthalmol Vis Sci 2013 Feb 01;54(2):950-61
Date
01/10/2013Pubmed ID
23299470Pubmed Central ID
PMC3564452DOI
10.1167/iovs.12-10707Scopus ID
2-s2.0-84873346570 (requires institutional sign-in at Scopus site) 86 CitationsAbstract
PURPOSE: To study retinal structure in choroideremia patients and carriers using high-resolution imaging techniques.
METHODS: 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, full-field electroretinography, and fundus autofluorescence (FAF). High-resolution macular images were obtained with adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography (SD-OCT). Coding regions of the CHM gene were sequenced.
RESULTS: Molecular analysis of the CHM gene identified a deletion of exons 9 to 15 in family A, a splice site mutation at position 79+1 of exon 1 in family B, deletion of exons 6 to 8 in family C, and a substitution at position 106 causing a premature stop in family D. BCVA ranged from 20/16 to 20/63 in carriers and from 20/25 to 5/63 in affected males. FAF showed abnormalities in all subjects. SD-OCT showed outer retinal layer loss, outer retinal tubulations at the margin of outer retinal loss, and inner retinal microcysts. Patchy cone loss was present in two symptomatic carriers. In two affected males, cone mosaics were disrupted with increased cone spacing near the fovea but more normal cone spacing near the edge of atrophy.
CONCLUSIONS: High-resolution retinal images in CHM carriers and affected males demonstrated RPE and photoreceptor cell degeneration. As both RPE and photoreceptor cells were affected, these cell types may degenerate simultaneously in CHM. These findings provide insight into the effect of CHM mutations on macular retinal structure, with implications for the development of treatments for CHM. (ClinicalTrials.gov number, NCT00254605.).
Author List
Syed R, Sundquist SM, Ratnam K, Zayit-Soudry S, Zhang Y, Crawford JB, MacDonald IM, Godara P, Rha J, Carroll J, Roorda A, Stepien KE, Duncan JLAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Adaptor Proteins, Signal TransducingAdolescent
Adult
Aged
Choroideremia
DNA
Female
Fluorescein Angiography
Fundus Oculi
Genetic Predisposition to Disease
Humans
Image Processing, Computer-Assisted
Male
Middle Aged
Mutation
Ophthalmoscopy
Pedigree
Phenotype
Polymerase Chain Reaction
Protein Prenylation
Retinal Cone Photoreceptor Cells
Tomography, Optical Coherence
Young Adult
