{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T04:22:25Z","timestamp":1778127745552,"version":"3.51.4"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:sec>\n            <jats:title>Purpose:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/iae.0000000000001629","type":"journal-article","created":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T14:19:57Z","timestamp":1492006797000},"page":"1047-1057","source":"Crossref","is-referenced-by-count":21,"title":["MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES"],"prefix":"10.1097","volume":"38","author":[{"given":"An-Lun","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung-Pan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology, Taipei Veterans General Hospital, Taipei, Taiwan;"},{"name":"School of Medicine, National Yang-Ming University, Taipei, Taiwan;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun-Ju","family":"Tseng","sequence":"additional","affiliation":[{"name":"Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Chuan","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kuan-Jen","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"An-Ning","family":"Chao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lung-Kun","family":"Yeh","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tun-Lu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yih-Shiou","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Chi","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi-Chun","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan-Kai","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan;"},{"name":"College of Medicine, Chang Gung University, Taoyuan, Taiwan."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20230816","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1097\/ICU.0b013e3283641f91","article-title":"Lyonization in ophthalmology","volume":"24","author":"Wuthisiri","year":"2013","journal-title":"Curr Opin Ophthalmol"},{"key":"R2-20230816","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/190372a0","article-title":"Gene action in the X-chromosome of the mouse (Mus musculus L.)","volume":"190","author":"Lyon","year":"1961","journal-title":"Nature"},{"key":"R3-20230816","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1001\/archopht.1986.01050210083030","article-title":"X-linked recessive retinitis pigmentosa. 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