期刊
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
卷 53, 期 13, 页码 8006-8015出版社
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
DOI: 10.1167/iovs.12-11087
关键词
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资金
- NEI [P30 EY001931, R01 EY017607, T32 EY014537, UL1 RR031973, R01 EY014375, P30 EY001319, P30 EY001730, R01 EY009303, R01 EY009620]
- Gene and Ruth Posner Foundation
- Foundation Fighting Blindness
- E. Matilda Ziegler Foundation for the Blind
- RD & Linda Peters Foundation
- Research to Prevent Blindness (Medical College of Wisconsin, University of Washington, University of Illinois-Chicago)
- Juvenile Diabetes Research Foundation [8-2002-130]
- Fight for Sight UK
- Moorfields Eye Hospital Special Trustees
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust
- UCL Institute of Ophthalmology
- Chief Scientist Office of the Ministry of Health, Israel [3000003241]
- Yedidut Research Grant
- Research to Prevent Blindness
- Burroughs Wellcome Fund
- Research Facilities Improvement Program
- National Center for Research Resources, National Institutes of Health [C06 RR016511]
PURPOSE. To evaluate retinal structure and photoreceptor mosaic integrity in subjects with OPN1LW and OPN1MW mutations. METHODS. Eleven subjects were recruited, eight of whom have been previously described. Cone and rod density was measured using images of the photoreceptor mosaic obtained from an adaptive optics scanning light ophthalmoscope (AOSLO). Total retinal thickness, inner retinal thickness, and outer nuclear layer plus Henle fiber layer (ONL+HFL) thickness were measured using cross-sectional spectral-domain optical coherence tomography (SD-OCT) images. Molecular genetic analyses were performed to characterize the OPN1LW/OPN1MW gene array. RESULTS. While disruptions in retinal lamination and cone mosaic structure were observed in all subjects, genotype-specific differences were also observed. For example, subjects with L/M interchange mutations resulting from intermixing of ancestral OPN1LW and OPN1MW genes had significant residual cone structure in the parafovea (similar to 25% of normal), despite widespread retinal disruption that included a large foveal lesion and thinning of the parafoveal inner retina. These subjects also reported a later-onset, progressive loss of visual function. In contrast, subjects with the C203R missense mutation presented with congenital blue cone monochromacy, with retinal lamination defects being restricted to the ONL+HFL and the degree of residual cone structure (8% of normal) being consistent with that expected for the S-cone submosaic. CONCLUSIONS. The photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations. Our study highlights the importance of high-resolution phenotyping to characterize cellular structure in inherited retinal disease; such information will be critical for selecting patients most likely to respond to therapeutic intervention and for establishing a baseline for evaluating treatment efficacy. (Invest Ophthalmol Vis Sci. 2012;53:8006-8015) DOI: 10.1167/iovs.12-11087
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