Related Experiment Video
Updated: Aug 10, 2025
10:10
Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
Published on: November 2, 2018
9.3K
Longitudinal Structure-Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual
Andrea Cusumano1,2, Benedetto Falsini2,3, Fabian D'Apolito2
1Department of Ophthalmology, Tor Vergata University, 00133 Rome, Italy.
Diagnostics (Basel, Switzerland)
|February 11, 2023
Summary
This study tracked a patient with CDHR1-related retinal dystrophy for three years. Progressive inner retinal thickening correlated with vision loss, suggesting it may be a target for future therapies.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Cadherin-related family member 1 (CDHR1) gene variants cause rare, heterogeneous retinal dystrophies.
- A three-year longitudinal study evaluated a patient with CDHR1-related retinal dystrophy.
Observation:
- A 14-year-old female patient with cone-rod dystrophy was assessed over three years.
- Evaluations included ophthalmological exams, visual function tests, and multimodal retinal imaging.
- Genetic sequencing identified compound heterozygous likely pathogenic/pathogenic variants in the CDHR1 gene.
Findings:
- The patient experienced declining visual acuity and perimetric sensitivity over the follow-up period.
- A progressive increase in inner retinal thickness (30%) was observed, while the outer retina remained unchanged.
- The observed visual loss correlated with structural changes in the inner retina.
Implications:
- Progressive inner retinal thickening in CDHR1-related cone-rod dystrophy may indicate retinal remodeling.
- These inner retinal changes could be functionally significant for disease progression.
- Understanding these changes is crucial for developing targeted therapies like gene therapy or stem cell treatments for photoreceptor loss.
