Cosmo Eleonora, Pilotto Elisabetta, Convento Enrica, Parolini Federico, Midena Edoardo
Department of Neuroscience-Ophthalmology, University of Padova, 35128 Padova, Italy.
IRCCS-Fondazione Bietti, 00198 Rome, Italy.
J Clin Med. 2024 Oct 8;13(19):5968. doi: 10.3390/jcm13195968.
Achromatopsia (ACHM) is a rare autosomal, recessively inherited disease that is characterized by cone dysfunction, for which several gene therapies are currently on trial. The aim of this study was to find correlations between the morphological macular changes identified using optical coherence tomography (OCT) and some visual functional parameters. Visual acuity (VA), contrast sensitivity (CS), and macular sensitivity obtained by means of microperimetry were assessed. Adolescents with ACHM underwent macular microperimetry (S-MAIA device) in mesopic condition, macular OCT, best corrected visual acuity (BCVA), low luminance visual acuity (LLVA), near vision acuity (NVA), and CS measurement. Eight patients (15 eyes) with ACHM were analyzed. The mean age was 17 ± 2.7 years, and genetic variants involved the CNGA3 gene (37.5%) and CNGB3 gene (62.5%). OCT staging significantly correlated with microperimetry sensitivity parameters, namely the sensitivity of the central foveal point ( = 0.0286) and of the first and second perifoveal rings ( = 0.0008 and = 0.0014, respectively). No correlations were found between OCT staging and VA measurements, nor with CS value. Among the extensive evaluated visual function tests, only microperimetry sensitivity showed a correlation with morphological macular changes identified at OCT. Microperimetry sensitivity may thus represent a useful visual function tool in natural ACHM history studies considering the upcoming research on gene therapies for the treatment of ACHM.
全色盲（ACHM）是一种罕见的常染色体隐性遗传病，其特征为视锥细胞功能障碍，目前有几种基因疗法正在进行试验。本研究的目的是找出使用光学相干断层扫描（OCT）识别的黄斑形态学变化与一些视觉功能参数之间的相关性。评估了视力（VA）、对比敏感度（CS）以及通过微视野计获得的黄斑敏感度。患有ACHM的青少年在中度照明条件下接受了黄斑微视野计检查（S-MAIA设备）、黄斑OCT检查、最佳矫正视力（BCVA）、低亮度视力（LLVA）、近视力（NVA）和CS测量。分析了8例（15只眼）患有ACHM的患者。平均年龄为17±2.7岁，基因变异涉及CNGA3基因（37.5%）和CNGB3基因（62.5%）。OCT分期与微视野计敏感度参数显著相关，即中央凹点的敏感度（=0.0286）以及黄斑旁第一环和第二环的敏感度（分别为=0.0008和=0.0014）。未发现OCT分期与VA测量值之间以及与CS值之间存在相关性。在广泛评估的视觉功能测试中，只有微视野计敏感度与OCT识别的黄斑形态学变化相关。因此，考虑到即将开展的针对ACHM治疗的基因疗法研究，微视野计敏感度可能是自然ACHM病史研究中一种有用的视觉功能工具。
