PMID- 37695977
OWN - NLM
STAT- MEDLINE
DCOM- 20231221
LR  - 20240415
IS  - 1539-2864 (Electronic)
IS  - 0275-004X (Linking)
VI  - 44
IP  - 1
DP  - 2024 Jan 1
TI  - GENETIC FACTORS AND CHARACTERISTICS ON SPECTRAL-DOMAIN OPTICAL COHERENCE 
      TOMOGRAPHY ARE ASSOCIATED WITH CHOROIDAL THICKNESS IN ABCA4 -RELATED RETINOPATHY.
PG  - 166-174
LID - 10.1097/IAE.0000000000003931 [doi]
AB  - PURPOSE: To investigate the possible correlation factors of choroidal thickness 
      in ABCA4 -related retinopathy. METHODS: A total of 66 patients were included in 
      the cohort. It is a retrospective, cross-sectional laboratory investigation. The 
      patients were tested using whole-exon sequencing and ophthalmic examinations, 
      including slit-lamp examinations, best-corrected visual acuity, spectral-domain 
      optical coherence tomography, fundus photograph, and fundus autofluorescence. 
      RESULTS: Besides demographic characteristics (age, onset age, duration), we 
      selected genetic factors and ocular characteristics on spectral-domain optical 
      coherence tomography as the candidates related to choroidal thickness. Mutation 
      type (inframe mutation or premature termination codon), epiretinal membrane, 
      retinal pigment epithelium- Bruch membrane integrity, and macular curvature 
      changes were identified as related factors to choroidal thickness in ABCA4 
      -related retinopathy after the adjustment of Logistic LASSO regression. 
      CONCLUSION: Mutation type, epiretinal membrane, retinal pigment epithelium-Bruch 
      membrane integrity, and macular curvature changes are related factors to 
      choroidal thinning. These findings could provide us a further understanding for 
      the pathological process and clinical features of ABCA4 mutation.
FAU - Wang, Yimin
AU  - Wang Y
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
AD  - Department of Ophthalmology, Zhongshan Hospital, Fudan University, Shanghai, 
      China, Shanghai, China; and.
FAU - Chen, Jieqiong
AU  - Chen J
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Zhang, Min
AU  - Zhang M
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Yu, Suqin
AU  - Yu S
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Gong, Yuanyuan
AU  - Gong Y
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Lin, Feng
AU  - Lin F
AD  - Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan 
      University, Shanghai, China.
FAU - Wu, Yidong
AU  - Wu Y
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Liu, Wenjia
AU  - Liu W
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Sun, Junran
AU  - Sun J
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Li, Tong
AU  - Li T
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
FAU - Sun, Xiaodong
AU  - Sun X
AD  - Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong 
      University School of Medicine, Shanghai, China.
AD  - National Clinical Research Center for Eye Disease, Shanghai, China.
AD  - Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai, China.
AD  - Shanghai Engineering Center for Visual Science and Photomedicine.
CN  - Shanghai Inherited Retinal Disease (SHIRD) Study Group
LA  - eng
GR  - 82171076/National Natural Science Foundation of China/
GR  - 82101159/National Natural Science Foundation of China/
GR  - 20Z11900400/Science and Technology Innovation Plan Of Shanghai Science and 
      Technology Commission/
GR  - SHDC2020CR2040B/Shanghai Hospital Development Center/
GR  - SHDC2020CR5014/Shanghai Hospital Development Center/
PT  - Journal Article
PL  - United States
TA  - Retina
JT  - Retina (Philadelphia, Pa.)
JID - 8309919
RN  - 0 (ABCA4 protein, human)
RN  - 0 (ATP-Binding Cassette Transporters)
SB  - IM
MH  - Humans
MH  - *Epiretinal Membrane
MH  - Retrospective Studies
MH  - Tomography, Optical Coherence/methods
MH  - Cross-Sectional Studies
MH  - *Retinal Diseases/diagnosis/genetics/pathology
MH  - ATP-Binding Cassette Transporters/genetics
EDAT- 2023/09/11 18:41
MHDA- 2023/12/21 06:42
CRDT- 2023/09/11 15:54
PHST- 2023/12/21 06:42 [medline]
PHST- 2023/09/11 18:41 [pubmed]
PHST- 2023/09/11 15:54 [entrez]
AID - 00006982-990000000-00463 [pii]
AID - 10.1097/IAE.0000000000003931 [doi]
PST - ppublish
SO  - Retina. 2024 Jan 1;44(1):166-174. doi: 10.1097/IAE.0000000000003931.