Collison Frederick T, Park Jason C, Fishman Gerald A, McAnany J Jason, Stone Edwin M
The Pangere Center for Inherited Retinal Diseases The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, Illinois, United States.
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Illinois, United States.
Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7130-6. doi: 10.1167/iovs.15-17467.
To investigate visual function in patients with CEP290 Leber congenital amaurosis (LCA-CEP290), using three full-field tests that can be performed by patients with poor fixation.
Six patients (age range, 9-39 years) with LCA-CEP290 participated in the study. Stimuli for all three tests (full-field stimulus test [FST], pupillometry, and light discomfort threshold [LDT] testing) were generated by the Diagnosys ColorDome ganzfeld, by using achromatic stimuli as well as long- and short-wavelength stimuli to target rod and cone photoreceptors with all three tests and, in the latter two tests, melanopsin photoreceptors.
Dark-adapted FST thresholds in LCA-CEP290 patients were cone mediated and elevated between 4.8 and 6.2 log units above the normal achromatic threshold. The FST threshold was not measurable in one patient. The rod-mediated transient pupillary light reflex (PLR) was absent in all but the youngest patient, where unreliable responses precluded PLR quantification. Cone-mediated transient PLRs were subnormal in five patients, and absent in another. Sustained melanopsin-mediated PLRs were measurable in all patients. Full-field LDT thresholds were elevated compared to normal controls, and were lower for short-wavelengh than for long-wavelength stimuli.
The FST thresholds and transient PLRs were cone mediated in our cohort LCA-CEP290 patients. Rod-mediated PLRs were undetectable, whereas melanopsin-mediated sustained responses were detected in all patients, suggesting a relative preservation of inner-retina function. The LDT elevations for the patients are somewhat paradoxical, given their subjective perception of photoaversion. Relative aversion to short-wavelength light suggests influence from melanopsin on LDTs in these patients.
使用三种可由注视不良患者进行的全视野测试，研究CEP290型莱伯先天性黑蒙（LCA - CEP290）患者的视觉功能。
六名LCA - CEP290患者（年龄范围9 - 39岁）参与了该研究。所有三种测试（全视野刺激测试[FST]、瞳孔测量和光不适阈值[LDT]测试）的刺激均由Diagnosys ColorDome全视野刺激器产生，使用消色差刺激以及长波长和短波长刺激，通过这三种测试针对视杆和视锥光感受器，并且在后两种测试中针对黑素视蛋白光感受器。
LCA - CEP290患者的暗适应FST阈值由视锥介导，比正常消色差阈值高4.8至6.2对数单位。一名患者的FST阈值无法测量。除最年轻的患者外，所有患者的视杆介导的瞬态瞳孔光反射（PLR）均缺失，该年轻患者的反应不可靠，无法进行PLR定量。五名患者的视锥介导的瞬态PLR低于正常水平，另一名患者则缺失。所有患者均可测量到持续的黑素视蛋白介导的PLR。与正常对照组相比，全视野LDT阈值升高，短波长刺激的LDT阈值低于长波长刺激。
在我们的LCA - CEP290患者队列中，FST阈值和瞬态PLR由视锥介导。视杆介导的PLR无法检测到，而所有患者均检测到黑素视蛋白介导的持续反应，提示视网膜内层功能相对保留。鉴于患者对光厌恶的主观感受，患者的LDT升高有些自相矛盾。对短波长光的相对厌恶表明黑素视蛋白对这些患者的LDT有影响。
