講演情報
[OE4-4]東アジアにおける黄斑ジストロフィー患者の臨床的および遺伝学的特徴：周縁部の特徴と遺伝子型との関連性
○藤波 芳1,2,3, 藤波 優1,2,4, East Asia Inherited Retinal Disease Society Group1 (1.東京医療センター臨床研究センター 視覚研究部 視覚生理学研究室, 2.UCL Institute of Ophthalmology, London, UK, 3.Moorfields Eye Hospital, London, UK, 4.慶應義塾大学 医学研究科 医療政策管理学教室)
Purpose: To investigate the perimetric features and their associations with structure, function and genotype in patients with RP1L1- occult macular dystrophy (OMD; i.e. Miyake disease).
Methods: 76 eyes of 38 patients from an East Asian cohort of patients with Miyake disease were recruited from Japan, South Korea, and China. Visual field tests were performed using standard automated perimetry, and the patients were classified into three perimetric groups based on the visual field findings: central scotoma, other scotoma (e.g. paracentral scotoma), and no scotoma. The association of the structural, functional, genetic findings with the perimetric groups was evaluated.
Results: Fifty-four eyes (71.1%) showed central scotoma, 14 (18.4%) had other scotomata, and 8 (10.5%) had no scotoma. Among the three perimetric groups, there were significant differences in visual symptoms, best-corrected visual acuity (BCVA), and structural phenotypes (i.e. severity of photoreceptor changes). The central scotoma group frequently harboured a pathogenic variant of p.R45W (72.2%). The multifocal electroretinogram (mfERG) groups largely corresponded with the perimetric groups.
Conclusions: The patterns of scotoma with different clinical severity were first identified in Miyake disease, and central scotoma, a severe pattern, was most frequently observed in patients with p.R45W. These data help to monitor and counsel patients, and to design future therapeutic trials.
Methods: 76 eyes of 38 patients from an East Asian cohort of patients with Miyake disease were recruited from Japan, South Korea, and China. Visual field tests were performed using standard automated perimetry, and the patients were classified into three perimetric groups based on the visual field findings: central scotoma, other scotoma (e.g. paracentral scotoma), and no scotoma. The association of the structural, functional, genetic findings with the perimetric groups was evaluated.
Results: Fifty-four eyes (71.1%) showed central scotoma, 14 (18.4%) had other scotomata, and 8 (10.5%) had no scotoma. Among the three perimetric groups, there were significant differences in visual symptoms, best-corrected visual acuity (BCVA), and structural phenotypes (i.e. severity of photoreceptor changes). The central scotoma group frequently harboured a pathogenic variant of p.R45W (72.2%). The multifocal electroretinogram (mfERG) groups largely corresponded with the perimetric groups.
Conclusions: The patterns of scotoma with different clinical severity were first identified in Miyake disease, and central scotoma, a severe pattern, was most frequently observed in patients with p.R45W. These data help to monitor and counsel patients, and to design future therapeutic trials.