title: Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.
abstract: The aim of this study was to investigate visualization of the tapetal-like reflex using current imaging modalities and evaluate SD-OCT changes in known carriers of X-linked retinitis pigmentosa (XLRP); the objective being the development of an optimal protocol for clinicians to identify carriers. Ten XLRP carriers (19 eyes) were examined using color fundus photography, 488 nm reflectance (488-R), near-infrared reflectance (NIR-R), autofluorescence (AF) and spectral domain optical coherence tomography (SD-OCT) imaging (Spectralis SLO-OCT, Heidelberg). Horizontal line scans through the fovea were acquired in all subjects and in a group of 10 age-similar controls. Peripheral SD-OCT scans (extending to 27.5° eccentricity) were also acquired in both eyes of 7 carriers. MP-1 microperimetery (10-2 pattern; Nidek) was performed in one eye of each carrier. For the XLRP carriers, a tapetal reflex was observed with all imaging modalities in 8 of 19 eyes. It had the same retinal location on color fundus, 488-R and NIR-R imaging but a different location on AF. The tapetal reflex was most easily detected in 488-R images. The horizontal foveal SD-OCT scans were qualitatively normal, but measurements showed significant outer retinal layer thinning in all eyes. Additionally, the 14 eyes with peripheral SD-OCTs demonstrated patchy loss of the inner segment ellipsoid band. Microperimetry exhibited patchy visual sensitivity loss in 9 eyes. Full field ERGs were variable, ranging from normal to severely abnormal rod and cone responses. Our findings suggest that an optimal protocol for identifying carriers of XLRP should include 488-R imaging in a multimodal approach. Peripheral SD-OCT imaging and central retinal layer quantification revealed significant structural abnormalities.
authors.affiliation: Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Inst., 635 W. 165th Street, 5th Floor, New York, NY 10032, USA.
authors.forename: Jennifer H
authors.initials: JH
authors.lastname: Acton
authors.forename: Jonathan P
authors.initials: JP
authors.lastname: Greenberg
authors.forename: Vivienne C
authors.initials: VC
authors.lastname: Greenstein
authors.forename: Marcela
authors.initials: M
authors.lastname: Marsiglia
authors.forename: Mirela
authors.initials: M
authors.lastname: Tabacaru
authors.forename: R
authors.initials: R
authors.lastname: Theodore Smith
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
mesh_terms: D000328:Adult; D003941:Diagnostic Techniques, Ophthalmological; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009887:Ophthalmoscopy; D010375:Pedigree; D012160:Retina / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D041623:Tomography, Optical Coherence; D058609:Visual Field Tests
chemical_list: D005136:Eye Proteins; C099929:RPGR protein, human
keywords: X-linked retinitis pigmentosa; microperimetry; scanning laser ophthalmoscope; spectral domain optical coherence tomograph; tapetal-like reflex