Related Experiment Video
Updated: Jan 14, 2026
07:44
In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography
Published on: July 24, 2020
3.4K
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Lili Zhang1,2,3, Hangyu Li1,2,3,4, Cong Duan5
1Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, People's Republic of China.
Investigative Ophthalmology & Visual Science
|October 21, 2025
Summary
Genetic factors significantly influence axial length (AL) in inherited retinal diseases (IRDs). Specific gene variants and retinal phenotypes are linked to either longer or shorter AL, impacting ocular development.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Inherited retinal diseases (IRDs) encompass a group of genetic disorders affecting vision.
- Axial length (AL) is a critical parameter in ocular development and refractive error.
- Understanding the genetic basis of AL variations in IRDs is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the distribution patterns of axial length (AL) in patients with inherited retinal diseases (IRDs).
- To identify specific genetic factors contributing to AL variations in IRDs.
- To correlate AL patterns with distinct IRD genotypes and phenotypes.
Main Methods:
- Retrospective analysis of data from 397 genetically confirmed IRD patients and 605 healthy controls.
- Review of demographic details, phenotypic traits, genotypic profiles, and binocular AL measurements.
- Categorization of IRDs based on genetic variants and affected retinal cell types.
Main Results:
- Significant differences in AL profiles were observed across IRD genotypes and phenotypes.
- Pathogenic variants in COL11A1, RP1, and RPGR were associated with longer AL; variants in BEST1 correlated with shorter AL.
- Specific phenotypes like vitreoretinopathy and choroid/RPE dystrophy showed strong associations with longer AL, while rod-dominated dystrophy exhibited a bidirectional pattern.
Conclusions:
- Specific IRD phenotypes are correlated with distinct axial length (AL) patterns, with genetic factors as key determinants.
- Mutations in genes such as COL2A1, RP1, and RPGR are linked to longer AL, whereas BEST1 variants are associated with shorter AL.
- These findings suggest that certain genetic causes of IRDs interfere with the normal process of ocular emmetropization.
