■Doyne蜂窝状视网膜营养不良(DHRD),或常染色体显性放射状玻璃疣,是一种遗传性疾病,由含有表皮生长因子(EGF)的腓骨蛋白样细胞外基质蛋白1EFEMP1基因的致病性变异体引起,其特征是形成视网膜下的玻璃样沉积物。在之前的研究中,我们报道了纳秒激光治疗(2RT)对DHRD视网膜功能的短期有益影响.本报告的目的是描述接受2RT治疗的DHRD患者的小病例系列视网膜结构/功能的长期随访结果。
■三名DHRD患者(病例1,男性,病例2和3,两名姐妹女性,年龄范围41-46)在基线和2RT治疗后检查了EFEMP1致病性变异(c.1033C>T;p.R345W)和后极处的神经壶样沉积,定期(每2-4个月),最多30个月。在随访期间,所有3名患者的一只或两只眼睛都接受了一次或两次治疗。病例3仅用左眼(LE)治疗。每位患者都接受了全面的眼科检查,谱域光学相干层析成像(OCT),具有倍频技术的中央视野,以及中视和明视Ganzfeld视网膜电图。与基线结果相比,在后续行动中,在病例1和病例2中,双眼的视力均得到改善,而在病例2和病例3中,右眼的视力下降;在病例1中,周边敏感度稳定,在病例2和3中,双眼均得到改善;在病例1和2中,视网膜电图幅度得到改善,在病例3中(双眼)是稳定的。所有病例的OCT中心黄斑厚度和视网膜结构均稳定。没有患者有治疗相关的副作用。
■这是第一份报告显示,在长期随访中,DHRD的2RT治疗可以改善或稳定一些视网膜功能参数,而没有明显的结构变化。
UNASSIGNED: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. In a previous study, we reported the short-term beneficial effects of nanosecond laser treatment (2RT) on retinal function in DHRD. The aim of the present report was to describe the findings of a long-term follow-up of retinal structure/function in a small
case series of patients with DHRD who underwent 2RT treatment.
UNASSIGNED: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41-46) with EFEMP1 pathogenic variant (c.1033C>T; p.R345W) and drusenoid deposits at the posterior pole were examined at baseline and after 2RT treatment, at regular intervals (every 2-4 months) up to 30 months. All 3 patients underwent one or two treatment sessions in one or both eyes during the follow-up period.
Case 3 was treated with only the left eye (LE). Each patient underwent a full ophthalmologic examination, spectral domain optical coherence tomography (OCT), central perimetry with frequency doubling technology, and mesopic and photopic Ganzfeld electroretinograms. Compared to baseline findings, during follow-up, visual acuity improved in both eyes in
case 1 and LE in
case 2, while it decreased in the right eye in
case 2 and LE in
case 3; perimetric sensitivity was stable in case 1 and improved in both eyes in cases 2 and 3; and electroretinogram amplitude improved in cases 1 and 2 and was stable in
case 3 (both eyes). OCT central macular thickness and retinal structure were stable in all cases. None of the patients had treatment-related side effects.
UNASSIGNED: This is the first report showing that in a long-term follow-up, 2RT treatment in DHRD may improve or stabilize some retinal function parameters without significant structural changes.