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목적 : The purpose of this study was to evaluate structural characteristics in 5 female obligate carriers of X-linked retinitis pigmentosa (XLRP) by using multimodal non-invasive imaging methods, including adaptive optics scanning laser ophthalmoscopy (AO-SLO).
방법 : Five patients and 18 controls having similar age and refractive error with patients were investigated. The XLRP carrier state was diagnosed by clinical and genetic analyses. All participants underwent a complete ophthalmic examination that included fundus color photography, IR fundus imaging, FAF imaging and full field ERG. High resolution image of cone structure and direct measurement of the number of cones were investigated by AO-SLO. For the number of cones, we acquired 2 kinds of parameters: cone count by manual estimation and cone density by automated estimation.
결과 : Compared to normal eyes, some images of each XLRP patient showed normal appearance of cone cell with a compact arrangement. However, cone cells in several areas showed irregular pattern and were of variable asymmetrical sizes and shapes with some dark areas. We manually and automatically counted the number of cone cells in these images and in both methods, statistical analysis revealed that the number of cone cells was significantly decreased. Among total 60 areas obtained from our 5 carriers, overall 29 areas showed cone counts or densities lower than 1 standard deviation from the controls.
결론 : In all 5 carriers examined, qualitative and quantitative analyses by AO-SLO imaging revealed a mosaic pattern of cone disruption, even in the absence of visual symptoms, normal visual acuity, and normal macular thickness, on optical coherence tomography and mildly subnormal full-field cone ERG findings. Further investigation of X-linked retinitis pigmentosa carriers may yield insight into how cone structures change over time and ultimately enable understanding of the role of RPGR and RP2 in live human patients.
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