PMID- 38265784
OWN - NLM
STAT- MEDLINE
DCOM- 20240125
LR  - 20240201
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 65
IP  - 1
DP  - 2024 Jan 2
TI  - Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With 
      Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
PG  - 41
LID - 10.1167/iovs.65.1.41 [doi]
LID - 41
AB  - PURPOSE: To characterize the clinical effects of two RP1L1 hotspots in patients 
      with East Asian occult macular dystrophy (OMD). METHODS: Fifty-one patients 
      diagnosed with OMD harboring monoallelic pathogenic RP1L1 variants (Miyake 
      disease) from Japan, South Korea, and China were enrolled. Patients were 
      classified into two genotype groups: group A, p.R45W, and group B, missense 
      variants located between amino acids (aa) 1196 and 1201. The clinical parameters 
      of the two genotypes were compared, and deep learning based on spectral-domain 
      optical coherence tomographic (SD-OCT) images was used to distinguish the 
      morphologic differences. RESULTS: Groups A and B included 29 and 22 patients, 
      respectively. The median age of onset in groups A and B was 14.0 and 40.0 years, 
      respectively. The median logMAR visual acuity of groups A and B was 0.70 and 
      0.51, respectively, and the survival curve analysis revealed a 15-year difference 
      in vision loss (logMAR 0.22). A statistically significant difference was observed 
      in the visual field classification, but no significant difference was found in 
      the multifocal electroretinographic classification. High accuracy (75.4%) was 
      achieved in classifying genotype groups based on SD-OCT images using machine 
      learning. CONCLUSIONS: Distinct clinical severities and morphologic phenotypes 
      supported by artificial intelligence-based classification were derived from the 
      two investigated RP1L1 hotspots: a more severe phenotype (p.R45W) and a milder 
      phenotype (1196-1201 aa). This newly identified genotype-phenotype association 
      will be valuable for medical care and the design of therapeutic trials.
FAU - Fujinami-Yokokawa, Yu
AU  - Fujinami-Yokokawa Y
AD  - Department of Health Policy and Management, Keio University School of Medicine, 
      Tokyo, Japan.
AD  - Laboratory of Visual Physiology, Division of Vision Research, National Institute 
      of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
AD  - UCL Institute of Ophthalmology, London, United Kingdom.
AD  - Division of Public Health, Yokokawa Clinic, Suita, Japan.
FAU - Joo, Kwangsic
AU  - Joo K
AD  - Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul 
      National University College of Medicine, Seongnam, Republic of Korea.
FAU - Liu, Xiao
AU  - Liu X
AD  - Laboratory of Visual Physiology, Division of Vision Research, National Institute 
      of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
AD  - Southwest Hospital, Army Medical University, Chongqing, China.
AD  - Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, 
      China.
FAU - Tsunoda, Kazushige
AU  - Tsunoda K
AD  - Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo 
      Medical Center, Tokyo, Japan.
FAU - Kondo, Mineo
AU  - Kondo M
AD  - Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, 
      Japan.
FAU - Ahn, Seong Joon
AU  - Ahn SJ
AD  - Department of Ophthalmology, Hanyang University Hospital, Hanyang University 
      College of Medicine, Seoul, Republic of Korea.
FAU - Robson, Anthony G
AU  - Robson AG
AD  - UCL Institute of Ophthalmology, London, United Kingdom.
AD  - Moorfields Eye Hospital, London, United Kingdom.
FAU - Naka, Izumi
AU  - Naka I
AD  - Department of Biological Sciences, Graduate School of Science, The University of 
      Tokyo, Tokyo, Japan.
FAU - Ohashi, Jun
AU  - Ohashi J
AD  - Department of Biological Sciences, Graduate School of Science, The University of 
      Tokyo, Tokyo, Japan.
FAU - Li, Hui
AU  - Li H
AD  - Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union 
      Medical College and Chinese Academy of Medical Sciences, Beijing, China.
FAU - Yang, Lizhu
AU  - Yang L
AD  - Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union 
      Medical College and Chinese Academy of Medical Sciences, Beijing, China.
FAU - Arno, Gavin
AU  - Arno G
AD  - Laboratory of Visual Physiology, Division of Vision Research, National Institute 
      of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
AD  - UCL Institute of Ophthalmology, London, United Kingdom.
AD  - Moorfields Eye Hospital, London, United Kingdom.
FAU - Pontikos, Nikolas
AU  - Pontikos N
AD  - Laboratory of Visual Physiology, Division of Vision Research, National Institute 
      of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
AD  - UCL Institute of Ophthalmology, London, United Kingdom.
AD  - Moorfields Eye Hospital, London, United Kingdom.
FAU - Park, Kyu Hyung
AU  - Park KH
AD  - Department of Ophthalmology, Seoul National University Hospital, Seoul National 
      University College of Medicine, Seoul, Republic of Korea.
FAU - Michaelides, Michel
AU  - Michaelides M
AD  - Laboratory of Visual Physiology, Division of Vision Research, National Institute 
      of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
AD  - UCL Institute of Ophthalmology, London, United Kingdom.
AD  - Moorfields Eye Hospital, London, United Kingdom.
FAU - Tachimori, Hisateru
AU  - Tachimori H
AD  - Endowed Course for Health System Innovation, Keio University School of Medicine, 
      Tokyo, Japan.
FAU - Miyata, Hiroaki
AU  - Miyata H
AD  - Department of Health Policy and Management, Keio University School of Medicine, 
      Tokyo, Japan.
FAU - Sui, Ruifang
AU  - Sui R
AD  - Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union 
      Medical College and Chinese Academy of Medical Sciences, Beijing, China.
FAU - Woo, Se Joon
AU  - Woo SJ
AD  - Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul 
      National University College of Medicine, Seongnam, Republic of Korea.
FAU - Fujinami, Kaoru
AU  - Fujinami K
AD  - Laboratory of Visual Physiology, Division of Vision Research, National Institute 
      of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
AD  - UCL Institute of Ophthalmology, London, United Kingdom.
AD  - Moorfields Eye Hospital, London, United Kingdom.
CN  - East Asia Inherited Retinal Disease Society Study Group*
LA  - eng
GR  - WT_/Wellcome Trust/United Kingdom
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Amino Acids)
RN  - 0 (Eye Proteins)
RN  - 0 (RP1L1 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Humans
MH  - Young Adult
MH  - Amino Acids
MH  - *Artificial Intelligence
MH  - China
MH  - Chronic Disease
MH  - East Asian People
MH  - *Eye Proteins/genetics
MH  - *Macular Degeneration/genetics
MH  - Genetic Association Studies
PMC - PMC10810149
COIS- Disclosure: Y. Fujinami-Yokokawa, None; K. Joo, None; X. Liu, None; K. Tsunoda, 
      None; M. Kondo, None; S.J. Ahn, None; A.G. Robson, None; I. Naka, None; J. 
      Ohashi, None; H. Li, None; L. Yang, None; G. Arno, None; N. Pontikos, Phenopolis 
      Ltd. (F); K.H. Park, None; M. Michaelides, None; H. Tachimori, None; H. Miyata, 
      None; R. Sui, None; S.J. Woo, Samsung Bioepis (C), Curacle (C), Novelty Nobility 
      (C), Sometech (C), Novartis (F), Bayer (F), Alteogen (F), Janssen (F), Abbvie 
      (F), Philophos (F), Retimark (F); K. Fujinami, Astellas Pharma (C, F), Kubota 
      Pharmaceutical Holdings (C), Acucela (C), Novartis AG (C, F), Janssen Pharma (C, 
      F), Saliogen therapeutics (C), Alnylam pharmaceuticals (C), Belite Bio (C), FREST 
      (C), Restore Vision (C), Aavantgarde Bio (C), Takara Bio, Inc., Chugai 
      Pharmaceutical Co., LTD.
EDAT- 2024/01/24 12:43
MHDA- 2024/01/25 06:43
PMCR- 2024/01/24
CRDT- 2024/01/24 11:33
PHST- 2024/01/25 06:43 [medline]
PHST- 2024/01/24 12:43 [pubmed]
PHST- 2024/01/24 11:33 [entrez]
PHST- 2024/01/24 00:00 [pmc-release]
AID - 2793310 [pii]
AID - IOVS-23-37956 [pii]
AID - 10.1167/iovs.65.1.41 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2024 Jan 2;65(1):41. doi: 10.1167/iovs.65.1.41.