University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Pupil Research Group at the Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):18. doi: 10.1167/iovs.64.11.18.
Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod and cone function measured by chromatic pupil campimetry (CPC).
Sixty-three RP eyes (37 male, 14-58 years) were measured using CPC with specific photopic and scotopic protocols, and the relative maximal constriction amplitudes and latencies to constriction onset were analyzed per genotype (RP due to variants in EYS, n = 14; PDE6A, n = 10; RPE65, n = 15; USH2A, n = 10; and RPGR, n = 14). Correlation analyses between the pupillary responses were performed with age, full-field stimulus threshold (FST), and optical coherence tomography (OCT) for cones and rods, respectively, to the genotype.
Pupillary responses were most severely reduced in RPE65-RP. Patients with disease-associated variants in EYS and USH2A were accompanied with better-preserved rod function compared with the other subgroups, reaching statistical significance between EYS and RPE65. Cone function was statistically significantly correlated with age in USH2A-RP with an annual decline of 2.4%. Correlations of pupillary responses were found with FST but barely with the ellipsoid zone area in OCT. Latency was significantly more prolonged in RPE65-RP compared with the other genotypes for cones.
Rod and cone function measured objectively by CPC showed a different preservation between genotypes in RP. However, heterogeneity inside the same genotype was present. CPC data correlated with FST, but structural OCT parameters seem to be limited indicators for photoreceptor function in RP. Prolonged time dynamics for cones in RPE65 mutations suggest an impact on cone processing and might provide additional information in the evaluation of therapy effects.
验证导致色素性视网膜炎（RP）的特定基因型在通过彩色瞳孔量测定法（CPC）测量的杆状和锥状功能的保留方面是否存在差异。
使用特定的明适应和暗适应方案，通过 CPC 对 63 只 RP 眼（37 名男性，14-58 岁）进行测量，并按基因型（由 EYS 变异引起的 RP，n=14；PDE6A，n=10；RPE65，n=15；USH2A，n=10；和 RPGR，n=14）分析相对最大收缩幅度和收缩起始潜伏期。分别用年龄、全视野刺激阈值（FST）和光学相干断层扫描（OCT）对瞳孔反应进行相关性分析，以确定基因型。
RPE65-RP 的瞳孔反应最严重受损。与其他亚组相比，EYS 和 USH2A 中与疾病相关的变异患者的杆状功能保存较好，EYS 与 RPE65 之间具有统计学意义。在 USH2A-RP 中，锥状功能与年龄呈统计学显著相关，每年下降 2.4%。在 CPC 中，瞳孔反应与 FST 相关，但与 OCT 中的椭圆体区面积相关度不大。与其他基因型相比，RPE65-RP 的锥状潜伏期显著延长。
通过 CPC 客观测量的 RP 中杆状和锥状功能在不同基因型之间存在不同的保存。然而，同一基因型内存在异质性。CPC 数据与 FST 相关，但结构 OCT 参数似乎是 RP 中光感受器功能的有限指标。RPE65 突变中锥体的时间动力学延长提示对锥体处理的影响，并且可能在评估治疗效果时提供额外信息。
