Cusumano Andrea, Falsini Benedetto, Giardina Emiliano, Cascella Raffaella, Sebastiani Jacopo, Marshall John
University of Rome Tor Vergata, Via Montpellier 100133, Rome, Italy.
Department of Ophthalmology, Catholic University of Rome, Rome, Italy.
J Med Case Rep. 2019 Jan 10;13(1):5. doi: 10.1186/s13256-018-1935-1.
Based on phenotypic similarities between age-related macular degeneration and the autosomal disorder Doyne honeycomb retinal dystrophy, we report on a single nanolaser treatment of a patient with genotype Doyne honeycomb retinal dystrophy confirmation and evidence of disease progression over 12 months. The case study is the first report of short-term results of subthreshold nanolaser treatment in a patient with Doyne honeycomb retinal dystrophy.
A 43-year-old Caucasian man with moderate loss of visual acuity in his left eye (20/40) and normal visual acuity in his right eye (20/20), with clinical Doyne honeycomb retinal dystrophy diagnosis and genetic confirmation of the common heterozygous mutation (EFEMP1) by genetic testing, underwent nanopulse subthreshold laser treatment in his left eye. A safety examination, carried out 7 days after treatment, and clinical follow-up, conducted 60 days following laser treatment, showed improvement of visual acuity from baseline by two letters and a subjective improvement of blurring. While no apparent morphological changes were found on fundoscopy, increased autofluorescence in the treated eye was observed on imaging. In addition, 2 months after nanopulse subthreshold laser treatment, rod-mediated and cone-mediated full-field electroretinography b-wave amplitudes showed an increase from baseline in both the treated eye (300%) and untreated eye (50%). At 2 months after nanopulse subthreshold laser treatment, multifocal electroretinograms showed improvement. Acuity and full-field electroretinography improvement persisted at 6-month follow-up.
Sustained improvements in retinal function on electroretinography persisted in both eyes 6 months after treatment, suggesting an enhancement of phototransduction and retinoid recycling induced by nanopulse subthreshold laser treatment. The functional improvement observed in the untreated eye is hypothesized to arise from an increased expression and release of metalloproteinases that circulate systemically.
基于年龄相关性黄斑变性与常染色体疾病多伊内蜂窝状视网膜营养不良之间的表型相似性，我们报告了对一名经基因检测确诊为多伊内蜂窝状视网膜营养不良基因型且有疾病进展证据的患者进行单次纳米激光治疗的情况。该病例研究是关于多伊内蜂窝状视网膜营养不良患者阈下纳米激光治疗短期结果的首次报告。
一名43岁的白种男性，左眼视力中度下降（20/40），右眼视力正常（20/20），临床诊断为多伊内蜂窝状视网膜营养不良，基因检测证实存在常见的杂合突变（EFEMP1），其左眼接受了纳米脉冲阈下激光治疗。治疗7天后进行了安全性检查，激光治疗60天后进行了临床随访，结果显示视力较基线提高了两行，主观上视物模糊有所改善。虽然眼底镜检查未发现明显的形态学变化，但成像显示治疗眼的自发荧光增加。此外，纳米脉冲阈下激光治疗2个月后，治疗眼和未治疗眼的视杆细胞介导和视锥细胞介导的全视野视网膜电图b波振幅均较基线增加，治疗眼增加了300%（治疗眼），未治疗眼增加了50%。纳米脉冲阈下激光治疗2个月后，多焦视网膜电图显示有所改善。在6个月的随访中，视力和全视野视网膜电图的改善持续存在。
治疗6个月后，双眼视网膜电图显示视网膜功能持续改善，这表明纳米脉冲阈下激光治疗可增强光转导和视黄醛循环。未治疗眼观察到的功能改善据推测是由于全身循环的金属蛋白酶表达和释放增加所致。
