講演情報
[OE4-3]東アジアの黄斑変性症患者における2つのRP1L1ホットスポットの異なる臨床症状; EAOMD Report No.4
○藤波 優1,2,3, Ahn Seong Joon4, Joo Kwangsic5, 角田 和繁6, 近藤 峰生7, Li Hui8, Park Kyu Hyung5, 中 伊津美9, 大橋 順7, 立森 久照10, 宮田 裕章2, Woo Se Joon5, Sui Ruifang8, 藤波 芳1,3 (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.慶應義塾大学 医学部 医療政策管理学教室, 3.UCL Institute of Ophthalmology, London, UK, 4.Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul, Republic of Korea, 5.Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea, 6.東京医療センター臨床研究センター 視覚研究部, 7.三重大学大学院 医学系研究科 眼科学, 8.Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China, 9.東京大学 理学系研究科 生物科学専攻 生物学科, 10.慶應義塾大学 医学部 医療システムイノベーション寄附講座)
Purpose: To describe the different clinical effects of two hotspots in the RP1L1 gene in the East Asian studies of occult macular dystrophy (OMD).
Participants and Methods: 51 participants from 30 families with OMD caused by pathogenic RP1L1 variants were enrolled. Patients were classified into two genotype groups; patients with p.R45W variant (group A) and subjects with missense variants located between amino acid 1196 and 1201 (group B). Clinical parameters were statistically compared between these two genotype groups, including age of symptom onset, age at examination, visual acuity in the logarithm of the minimum angle of resolution unit (VA). The morphological features obtained with spectral-domain optical coherence tomography were also investigated utilising artificial intelligence.
Results: There are 29 patients in group A and 22 in group B. The median age of onset/examination was 14/42 years and 40/54 years in groups A and B, respectively. The median VA in the right/left eye of groups A and B was 0.70/0.70 and 0.35/0.46 LogMAR unit, respectively. Comparison analyses revealed statistically significant differences in terms of age of onset, age at the latest examination, and VA.
Conclusions: Different clinical severity derived from the two RP1L1 hotspots were identified; the severer phenotype of early onset and poor VA was related with p.R45W compared to 1196-1201. This genotype-phenotype association can be helpful for genetic counselling of patients regarding the visual severity.
Participants and Methods: 51 participants from 30 families with OMD caused by pathogenic RP1L1 variants were enrolled. Patients were classified into two genotype groups; patients with p.R45W variant (group A) and subjects with missense variants located between amino acid 1196 and 1201 (group B). Clinical parameters were statistically compared between these two genotype groups, including age of symptom onset, age at examination, visual acuity in the logarithm of the minimum angle of resolution unit (VA). The morphological features obtained with spectral-domain optical coherence tomography were also investigated utilising artificial intelligence.
Results: There are 29 patients in group A and 22 in group B. The median age of onset/examination was 14/42 years and 40/54 years in groups A and B, respectively. The median VA in the right/left eye of groups A and B was 0.70/0.70 and 0.35/0.46 LogMAR unit, respectively. Comparison analyses revealed statistically significant differences in terms of age of onset, age at the latest examination, and VA.
Conclusions: Different clinical severity derived from the two RP1L1 hotspots were identified; the severer phenotype of early onset and poor VA was related with p.R45W compared to 1196-1201. This genotype-phenotype association can be helpful for genetic counselling of patients regarding the visual severity.