Related Experiment Video
Updated: Jun 17, 2025
07:44
In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography
Published on: July 24, 2020
2.9K
Fabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities
Madelyn E Erdman1, Sanjay Ch1, Amer Mohiuddin1
1Ocular Immunology & Angiogenesis Lab, Department of Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Investigative Ophthalmology & Visual Science
|August 7, 2024
Summary
Fabry disease causes age-dependent eye abnormalities in rats, including increased intraocular pressure and corneal opacities, particularly in affected females. This study highlights the impact of genotype and aging on ocular damage in Fabry disease models.
Area of Science:
- Ophthalmology
- Genetics
- Lysosomal Storage Disorders
Background:
- Fabry disease is an X-linked lysosomal storage disorder causing multi-systemic damage.
- Ocular manifestations, including anterior segment abnormalities, are recognized complications.
- Understanding these ocular changes in relation to genetic and age factors is crucial for disease management.
Purpose of the Study:
- To evaluate anterior segment ocular abnormalities in a rat model of Fabry disease.
- To assess the influence of age, sex, and genotype on these abnormalities.
- To provide insights into the pathogenesis of ocular complications in Fabry disease.
Main Methods:
- Utilized alpha-galactosidase A knockout (KO) and wild-type (WT) rats across young, adult, and aged groups.
- Measured intraocular pressure (IOP), corneal and lens opacity, and tear break-up time (TBUT).
- Assessed corneal epithelial integrity and used anterior segment-optical coherence tomography (AS-OCT) for central corneal thickness (CCT) and anterior chamber depth (ACD).
Main Results:
- Fabry rats exhibited age-dependent increases in IOP, particularly males, and decreased TBUT with aging.
- Corneal epithelial integrity was compromised in KO males and HET females, and severely in KO females.
- Corneal and lens opacities, CCT, and ACD were significantly affected by age and genotype, with more pronounced changes in Fabry rats.
Conclusions:
- Anterior segment abnormalities in Fabry disease models worsen with age.
- Ocular findings like epithelial integrity, opacities, IOP, TBUT, CCT, and ACD are influenced by age, sex, and genotype.
- This study offers valuable insights into the age- and genotype-dependent ocular pathology of Fabry disease.
