title: High-resolution images of retinal structure in patients with choroideremia.
abstract: OBJECTIVE
  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.).
authors.affiliation: Department of Ophthalmology, University of California, San Francisco, USA.
authors.forename: Reema
authors.initials: R
authors.lastname: Syed
authors.forename: Sanna M
authors.initials: SM
authors.lastname: Sundquist
authors.forename: Kavitha
authors.initials: K
authors.lastname: Ratnam
authors.forename: Shiri
authors.initials: S
authors.lastname: Zayit-Soudry
authors.forename: Yuhua
authors.initials: Y
authors.lastname: Zhang
authors.forename: J Brooks
authors.initials: JB
authors.lastname: Crawford
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
authors.forename: Pooja
authors.initials: P
authors.lastname: Godara
authors.forename: Jungtae
authors.initials: J
authors.lastname: Rha
authors.forename: Joseph
authors.initials: J
authors.lastname: Carroll
authors.forename: Austin
authors.initials: A
authors.lastname: Roorda
authors.forename: Kimberly E
authors.initials: KE
authors.lastname: Stepien
authors.forename: Jacque L
authors.initials: JL
authors.lastname: Duncan
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000368:Aged; D015794:Choroideremia / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D004247:DNA / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods*; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy / Q000379:methods*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017368:Protein Prenylation; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology; D041623:Tomography, Optical Coherence / Q000379:methods*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D004247:DNA