title: MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES.
abstract: OBJECTIVE
  To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies.
  
  
  METHODS
  We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography.
  
  
  RESULTS
  In six X-linked retinitis pigmentosa carriers, fundus appearance varied from unremarkable to the presence of tapetal-like reflex and pigmentary changes. On FAF imaging, all carriers exhibited a bright radial reflex against a dark background. By spectral domain optical coherence tomography, loss of the ellipsoid zone in the macula was observed in 3 carriers (50%). Regarding the retinal laminar architecture, 4 carriers (66.7%) showed thinning of the outer nuclear layer and a dentate appearance of the outer plexiform layer. All five X-linked ocular albinism carriers showed a characteristic mud-splatter patterned fundus, dark radial streaks against a bright background on FAF imaging, and a normal-appearing retinal structure by spectral domain optical coherence tomography imaging. Two of the 3 CHM carriers (66.7%) showed a diffuse moth-eaten appearance of the fundus, and all 3 showed irregular hyper-FAF and hypo-FAF spots throughout the affected area. In the CHM carriers, the structural changes observed by spectral domain optical coherence tomography imaging were variable.
  
  
  CONCLUSIONS
  Our findings in an Asian cohort suggest that FAF imaging is a practical diagnostic test for differentiating X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM carriers. Wide-field FAF is an easy and helpful adjunct to testing for the correct diagnosis and identification of lyonization in carriers of these three mosaic retinopathies.
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
authors.forename: An-Lun
authors.initials: AL
authors.lastname: Wu
authors.affiliation: Department of Orthopaedics and Traumatology, Taipei Veterans General Hospital, Taipei, Taiwan.|School of Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Jung-Pan
authors.initials: JP
authors.lastname: Wang
authors.affiliation: Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York.
authors.forename: Yun-Ju
authors.initials: YJ
authors.lastname: Tseng
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Laura
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
authors.forename: Yu-Chuan
authors.initials: YC
authors.lastname: Kang
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Kuan-Jen
authors.initials: KJ
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: An-Ning
authors.initials: AN
authors.lastname: Chao
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Lung-Kun
authors.initials: LK
authors.lastname: Yeh
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Tun-Lu
authors.initials: TL
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Yih-Shiou
authors.initials: YS
authors.lastname: Hwang
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Wei-Chi
authors.initials: WC
authors.lastname: Wu
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Chi-Chun
authors.initials: CC
authors.lastname: Lai
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.|College of Medicine, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Nan-Kai
authors.initials: NK
authors.lastname: Wang
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000000981:diagnostic imaging / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015794:Choroideremia / Q000000981:diagnostic imaging / Q000473:pathology*; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D005451:Fluorescein Angiography; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D011446:Prospective Studies; D012174:Retinitis Pigmentosa / Q000000981:diagnostic imaging / Q000473:pathology*; D041623:Tomography, Optical Coherence; D055815:Young Adult