PMID- 37975849
OWN - NLM
STAT- MEDLINE
DCOM- 20231120
LR  - 20240210
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 64
IP  - 14
DP  - 2023 Nov 1
TI  - Clinical Characteristics and Genetic Variants in Taiwanese Patients With 
      PROM1-Related Inherited Retinal Disorders.
PG  - 25
LID - 10.1167/iovs.64.14.25 [doi]
LID - 25
AB  - PURPOSE: This study investigated the clinical characteristics of patients with 
      PROM1-related inherited retinal diseases (IRDs). METHODS: Patients diagnosed with 
      IRDs who had mutations in PROM1 were identified at Linkou Chang Gung Memorial 
      Hospital and Kaohsiung Medical University Hospital in Taiwan. Information on 
      clinical characteristics and best-corrected visual acuity was recorded. Color 
      fundus (CF) images, fundus autofluorescence photography (FAF), spectral-domain 
      optical coherence tomography (SD-OCT), and electroretinograms (ERGs) were 
      analyzed to examine patient phenotypes. PROM1 variants were detected using whole 
      exome sequencing and verified by Sanger sequencing. RESULTS: Fourteen patients 
      from nine families with PROM1-related IRDs were analyzed. Most patients exhibited 
      chorioretinal atrophy in the macular area, with or without extramacular 
      involvement on CF. Similarly, hypo-autofluorescence confined to the macular area, 
      with or without extramacular involvement, was present for most patients on FAF. 
      Furthermore, SD-OCT revealed outer retinal tubulations and focal or diffuse 
      retinal thinning. ERGs showed variable findings, including maculopathy with 
      normal ERG, subnormal cone response, and extinguished rod and cone responses. We 
      detected five variants of the PROM1 gene, including c.139del, c.794del, 
      c.1238T>A, c.2110C>T, and c.1117C>T. CONCLUSIONS: In this study, we evaluated 14 
      Taiwanese patients with five PROM1 variants. Additionally, incomplete penetrance 
      of heterozygous PROM1 variants was observed. Furthermore, patients with autosomal 
      dominant PROM1 variants had lesions in the macular area and the peripheral region 
      of the retina. SD-OCT serves as a useful tool for early detection of 
      PROM1-related IRDs, as it captures certain signs of such diseases.
FAU - Lin, Tzu-Yi
AU  - Lin TY
AD  - Department of Education, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
FAU - Wu, Pei-Liang
AU  - Wu PL
AD  - College of Medicine, National Taiwan University, Taipei, Taiwan.
AD  - Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia 
      University Irving Medical Center, Columbia University, New York, New York, United 
      States.
FAU - Kang, Eugene Yu-Chuan
AU  - Kang EY
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia 
      University Irving Medical Center, Columbia University, New York, New York, United 
      States.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
AD  - Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung 
      University, Taoyuan, Taiwan.
FAU - Chi, Yi-Chun
AU  - Chi YC
AD  - Department of Ophthalmology, Kaohsiung Medical University Hospital, Kaohsiung 
      Medical University, Kaohsiung, Taiwan.
FAU - Jenny, Laura A
AU  - Jenny LA
AD  - Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia 
      University Irving Medical Center, Columbia University, New York, New York, United 
      States.
FAU - Lin, Pei-Hsuan
AU  - Lin PH
AD  - Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia 
      University Irving Medical Center, Columbia University, New York, New York, United 
      States.
AD  - Department of Ophthalmology, National Taiwan University Yunlin Branch, Yunlin, 
      Taiwan.
FAU - Lee, Chia-Ying
AU  - Lee CY
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
FAU - Liu, Chun-Hsiu
AU  - Liu CH
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
FAU - Liu, Laura
AU  - Liu L
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
FAU - Yeh, Lung-Kun
AU  - Yeh LK
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
FAU - Chen, Kuan-Jen
AU  - Chen KJ
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
FAU - Hwang, Yih-Shiou
AU  - Hwang YS
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
FAU - Wu, Wei-Chi
AU  - Wu WC
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
FAU - Lai, Chi-Chun
AU  - Lai CC
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Keelung, Taiwan.
FAU - Hsiao, Meng-Chang
AU  - Hsiao MC
AD  - Department of Pathology, Microbiology and Immunology, Vanderbilt University 
      Medical Center, Nashville, Tennessee, United States.
FAU - Liu, Pei-Kang
AU  - Liu PK
AD  - Department of Ophthalmology, Kaohsiung Medical University Hospital, Kaohsiung 
      Medical University, Kaohsiung, Taiwan.
AD  - School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, 
      Taiwan.
FAU - Wang, Nan-Kai
AU  - Wang NK
AD  - College of Medicine, Chang Gung University, Taoyuan, Taiwan.
AD  - Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia 
      University Irving Medical Center, Columbia University, New York, New York, United 
      States.
AD  - Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, 
      Taoyuan, Taiwan.
LA  - eng
GR  - P30 EY019007/EY/NEI NIH HHS/United States
GR  - R01 EY031354/EY/NEI NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (PROM1 protein, human)
RN  - 0 (AC133 Antigen)
SB  - IM
MH  - Humans
MH  - Retina/pathology
MH  - *Retinal Degeneration/genetics
MH  - *Macular Degeneration/diagnosis
MH  - Retinal Cone Photoreceptor Cells
MH  - Mutation
MH  - Electroretinography
MH  - Tomography, Optical Coherence/methods
MH  - AC133 Antigen/genetics
PMC - PMC10664721
COIS- Disclosure: T.-Y. Lin, None; P.-L. Wu, None; E.Y.-C. Kang, None; Y.-C. Chi, None; 
      L.A. Jenny, None; P.-H. Lin, None; C.-Y. Lee, None; C.-H. Liu, None; L. Liu, 
      None; L.-K. Yeh, None; K.-J. Chen, None; Y.-S. Hwang, None; W.-C. Wu, None; C.-C. 
      Lai, None; M.-C. Hsiao, None; P.-K. Liu, None; N.-K. Wang, None
EDAT- 2023/11/17 15:32
MHDA- 2023/11/20 06:55
PMCR- 2023/11/17
CRDT- 2023/11/17 10:33
PHST- 2023/11/20 06:55 [medline]
PHST- 2023/11/17 15:32 [pubmed]
PHST- 2023/11/17 10:33 [entrez]
PHST- 2023/11/17 00:00 [pmc-release]
AID - 2793025 [pii]
AID - IOVS-23-37751 [pii]
AID - 10.1167/iovs.64.14.25 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2023 Nov 1;64(14):25. doi: 10.1167/iovs.64.14.25.