Presentation Information
[OE4-3]Different clinical effect of two RP1L1 hotspots of East Asian Patients with Occult Macular Dystrophy; EAOMD Report No.4
○Yu Fujinami-Yokokawa1,2,3, Seong Joon Ahn4, Kwangsic Joo5, Kazushige Tsunoda6, Mineo Kondo7, Hui Li8, Kyu Hyung Park5, Izumi Naka9, Jun Ohashi7, Hisateru Tachimori10, Hiroaki Miyata2, Se Joon Woo5, Ruifang Sui8, Kaoru Fujinami1,3 (1.Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan, 2.Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan, 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.Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan, 7.Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, Japan, 8.Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China, 9.Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Japan, 10.Endowed Course for Health System Innovation, Keio University School of Medicine, Tokyo, Japan)
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.