Evidence map›Paper›PMID 39127396›Full record

ArticleAmerican journal of ophthalmology2025

Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study.

Pei-Kang Liu, Winston Lee, Pei-Yin Su, Angela H Kim, Eugene Yu-Chuan Kang, Sarah R Levi, Laura A Jenny, Pei-Hsuan Lin, Yi-Chun Chi, Pei-Liang Wu and 10 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Novel Compound Heterozygous Variants inCase reports in ophthalmology
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Pei-Kang LiuFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; Department of Ophthalmology (P-K.L., Yi-C.C., Yo-C.C.), Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; School of Medicine (P-K.L., Yi-C.C., Yo-C.C.), College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Winston LeeFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Pei-Yin SuFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Angela H KimFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Eugene Yu-Chuan KangFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; Department of Ophthalmology (E.Y-C.K., L.L., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; College of Medicine (E.Y-C.K., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung University, Taoyuan, Taiwan; Graduate Institute of Clinical Medical Sciences (E.Y-C.K.), College of Medicine, Chang Gung University, Taoyuan, Taiwan; College of Arts and Sciences (E.H-H.W.), University of Miami, Coral Gables, Florida, USA.
Sarah R LeviFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Laura A JennyFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA.
Pei-Hsuan LinFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; Department of Ophthalmology (P-H.L.), National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan.
Yi-Chun ChiDepartment of Ophthalmology (P-K.L., Yi-C.C., Yo-C.C.), Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; School of Medicine (P-K.L., Yi-C.C., Yo-C.C.), College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Pei-Liang WuFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; College of Medicine (P-L.W.), National Taiwan University, Taipei, Taiwan.
Ethan Hung-Hsi WangFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; College of Arts and Sciences (E.H-H.W.), University of Miami, Coral Gables, Florida, USA.
Yo-Chen ChangDepartment of Ophthalmology (P-K.L., Yi-C.C., Yo-C.C.), Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; School of Medicine (P-K.L., Yi-C.C., Yo-C.C.), College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Laura LiuDepartment of Ophthalmology (E.Y-C.K., L.L., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; School of Traditional Chinese Medicine (L.L.), Chang Gung University, Taoyuan, Taiwan.
Kuan-Jen ChenDepartment of Ophthalmology (E.Y-C.K., L.L., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; College of Medicine (E.Y-C.K., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung University, Taoyuan, Taiwan.
Yih-Shiou HwangDepartment of Ophthalmology (E.Y-C.K., L.L., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; College of Medicine (E.Y-C.K., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung University, Taoyuan, Taiwan.
Wei-Chi WuDepartment of Ophthalmology (E.Y-C.K., L.L., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; College of Medicine (E.Y-C.K., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung University, Taoyuan, Taiwan.
Chi-Chun LaiDepartment of Ophthalmology (E.Y-C.K., L.L., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; College of Medicine (E.Y-C.K., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung University, Taoyuan, Taiwan; Department of Ophthalmology (C-C.L.), Chang Gung Memorial Hospital, Keelung, Taiwan.
Stephen H TsangFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; Department of Pathology and Cell Biology (S.H.T., R.A.), Columbia University Medical Center, New York, New York, USA; Vagelos College of Physicians and Surgeons (S.H.T., R.A., N-K.W.), Columbia University, New York, New York, USA.
Rando AllikmetsFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; Department of Pathology and Cell Biology (S.H.T., R.A.), Columbia University Medical Center, New York, New York, USA; Vagelos College of Physicians and Surgeons (S.H.T., R.A., N-K.W.), Columbia University, New York, New York, USA.
Nan-Kai WangFrom the Department of Ophthalmology (P-K.L., W.L., P-Y.S., A-H.K., E.Y-C.K., S.R.L., L.A.J., P-H.L., P-L.W., E.H-H.W., S.H.T., R.A., N-K.W.), Edward S. Harkness Eye Institute, Columbia University, New York, New York, USA; Department of Ophthalmology (E.Y-C.K., L.L., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; College of Medicine (E.Y-C.K., K-J.C., Y-S.H., W-C.W., C-C.L., N-K.W.), Chang Gung University, Taoyuan, Taiwan; Vagelos College of Physicians and Surgeons (S.H.T., R.A., N-K.W.), Columbia University, New York, New York, USA. Electronic address: wang.nankai@gmail.com.

Funding

Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Precision medicine for ABCA4 disease: modifier allelesR01EY028203 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2018 to 2021
$2.3M
Integrated clinical, genetic and functional analysis of the ABCA4 locusR01EY029315 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2019 to 2023
$2.2M
Stargardt disease with low lipofuscinR01EY028954 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALLIKMETS, RANDO L · 2019 to 2022
$2.1M
Reprogramming the metabolome to overcome the genetic heterogeneity in retinitis pigmentosaR01EY031354 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WANG, NAN-KAI · 2020 to 2024
$2.0M
NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY028203NEI NIH HHS R01 EY028954NEI NIH HHS R01 EY029315NEI NIH HHS R01 EY031354
6 · The paper itself

Abstract

purposeThis study aims to explore genetic variants that potentially lead to outer retinal tubulation (ORT), estimate the prevalence of ORT in these candidate genes, and investigate the clinical etiology of ORT in patients with inherited retinal diseases (IRDs), with respect to each gene.

designRetrospective cohort study.

methodsA retrospective cross-sectional review was conducted on 565 patients with molecular diagnoses of IRD, confirming the presence of ORT as noted in each patient's respective spectral-domain optical coherence tomography (SD-OCT) imaging. Using SD-OCT imaging, the presence of ORT was analyzed in relation to specific genetic variants and phenotypic characteristics. Outcomes included the observed ORT frequencies across 2 gene-specific cohorts: non-retinal pigment epithelium (RPE)-specific genes, and RPE-specific genes; and to investigate the analogous characteristics caused by variants in these genes.

resultsAmong the 565 patients included in this study, 104 exhibited ORT on SD-OCT. We observed ORT frequencies among the following genes from our patient cohort: 100% (23/23) for CHM, 100% (2/2) for PNPLA6, 100% (4/4) for RCBTB1, 100% for mtDNA [100% (4/4) for MT-TL1 and 100% (1/1) for mtDNA deletion], 100% (1/1) for OAT, 95.2% (20/21) for CYP4V2, 72.7% (8/11) for CHM female carriers, 66.7% (2/3) for C1QTNF5, 57.1% (8/14) for PROM1, 53.8% (7/13) for PRPH2, 42.9% (3/7) for CERKL, 28.6% (2/7) for CDHR1, 20% (1/5) for RPE65, 4% (18/445) for ABCA4. In contrast, ORT was not observed in any patients with photoreceptor-specific gene variants, such as RHO (n = 13), USH2A (n = 118), EYS (n = 70), PDE6B (n = 10), PDE6A (n = 4), and others.

conclusionsThese results illustrate a compelling association between the presence of ORT and IRDs caused by variants in RPE-specific genes, as well as non-RPE-specific genes. In contrast, IRDs caused by photoreceptor-specific genes are typically not associated with ORT occurrence. Further analysis revealed that ORT tends to manifest in IRDs with milder intraretinal pigment migration (IPM), a finding that is typically associated with RPE-specific genes. These findings regarding ORT, genetic factors, atrophic patterns in the fundus, and IPM provide valuable insight into the complex etiology of IRDs. Future prospective studies are needed to further explore the association and underlying mechanisms of ORT in these contexts.

Indexed as

Retinal DiseasesTomography, Optical CoherenceAdolescentAdultAgedChildCross-Sectional StudiesEye Diseases, HereditaryFemaleHumansMaleMiddle AgedRetinal Photoreceptor Cell Outer SegmentRetinal Pigment EpitheliumRetrospective StudiesYoung Adult

Identifiers

PMID39127396
PMCPMC11634660

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.