Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Epidemiology and treatment trends of retinopathy of prematurity: a multi-center study involving four Asian centers and one European center (2016-2023).

Japanese journal of ophthalmology·2026
Same author

Efficacy and safety of different intraocular therapies for non-infectious uveitis: A network meta-analysis.

Survey of ophthalmology·2026
Same author

Changes in tomographic parameters across different wearing and cessation periods of apical clearance-fitted rigid gas-permeable contact lenses in keratoconus.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026
Same author

Visual and refractive outcomes of retinopathy of prematurity in school-age patients.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026
Same author

Home Tonometry and Perimetry: Addressing an Unmet Need in Glaucoma Care.

International ophthalmology clinics·2026
Same author

Laser Speckle Flowgraphy Assessment of Ocular Blood Flow in School-Aged Children With or Without a History of Retinopathy of Prematurity.

Clinical & experimental ophthalmology·2026

Related Experiment Video

Updated: Jun 17, 2025

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
10:10

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Published on: November 2, 2018

9.2K

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

Pei-Kang Liu1, Winston Lee2, Pei-Yin Su2

  • 1From 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.

American Journal of Ophthalmology
|August 10, 2024
PubMed
Summary

Outer retinal tubulation (ORT) is strongly linked to inherited retinal diseases (IRDs) involving retinal pigment epithelium (RPE)-specific and non-RPE genes. ORT is not typically seen in IRDs caused by photoreceptor-specific genes.

More Related Videos

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.2K
In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography
07:44

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

Published on: July 24, 2020

2.9K

Related Experiment Videos

Last Updated: Jun 17, 2025

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
10:10

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Published on: November 2, 2018

9.2K
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.2K
In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography
07:44

In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography

Published on: July 24, 2020

2.9K

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Outer retinal tubulation (ORT) is a distinct morphologic finding observed in inherited retinal diseases (IRDs).
  • The genetic underpinnings and clinical associations of ORT remain incompletely understood.
  • Investigating ORT's relationship with specific gene variants can elucidate disease mechanisms in IRDs.

Purpose of the Study:

  • To identify genetic variants associated with ORT.
  • To determine the prevalence of ORT across different gene cohorts in patients with IRDs.
  • To explore the clinical etiology of ORT in relation to specific genes causing IRDs.

Main Methods:

  • Retrospective cross-sectional review of 565 patients with molecularly diagnosed IRDs.
  • Analysis of spectral-domain optical coherence tomography (SD-OCT) to confirm ORT presence.
  • Correlation of ORT findings with specific genetic variants and phenotypic characteristics.

Main Results:

  • ORT was observed in 104 of 565 patients.
  • High ORT frequencies were noted in patients with variants in RPE-specific genes (e.g., CHM, PNPLA6, RCBTB1, mtDNA, OAT, CYP4V2) and some non-RPE-specific genes.
  • ORT was absent in patients with photoreceptor-specific gene variants (e.g., RHO, USH2A, EYS).

Conclusions:

  • A significant association exists between ORT and IRDs caused by RPE-specific and non-RPE-specific genes.
  • IRDs driven by photoreceptor-specific genes generally do not exhibit ORT.
  • ORT occurrence correlates with milder intraretinal pigment migration (IPM), suggesting shared pathomechanisms, particularly with RPE-specific gene variants.