Optical coherence tomography in children with inherited retinal disease
Related Experiment Video
Updated: Jun 14, 2026
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
Jasleen K Jolly1,2, Brent M Rodda3, Thomas L Edwards4,5
1Vision and Eye Research Institute, Anglia Ruskin University, Cambridge, UK.
Insights
Optical coherence tomography (OCT) is crucial for monitoring pediatric inherited retinal diseases. Understanding OCT findings in children helps track disease progression and identify early biomarkers for gene therapy clinical trials.
Area of Science:
- Ophthalmology
- Medical Imaging
- Genetics
Background:
- Inherited retinal diseases (IRDs) are increasingly treatable with gene therapy.
- Early intervention is key for gene therapy efficacy, highlighting the importance of pediatric IRD research.
- Accurate monitoring of disease progression in children is essential for effective treatment.
Purpose of the Study:
- To review optical coherence tomography (OCT) findings in common pediatric inherited retinal diseases.
- To emphasize the role of OCT in monitoring disease progression and identifying biomarkers for clinical trials.
- To enhance clinical care for optometrists managing children with IRDs.
Main Methods:
- Focused review of optical coherence tomography (OCT) as the primary imaging modality.
- Discussion of current knowledge on OCT findings in eight specific pediatric IRDs.
- Synthesis of information for both clinical and research applications.
Main Results:
- Optical coherence tomography (OCT) is a valuable tool for assessing pediatric inherited retinal diseases.
- Specific OCT findings vary across different IRDs, providing diagnostic and prognostic information.
- This review consolidates current understanding of OCT in conditions like Stargardt disease, Usher syndrome, and retinitis pigmentosa.
Conclusions:
- Comprehensive understanding of OCT in pediatric IRDs is vital for advancing gene therapy research.
- OCT imaging provides critical data for monitoring disease progression and evaluating treatment outcomes.
- Improved knowledge of OCT findings can lead to better clinical management of children with inherited retinal diseases.
Abstract:
Recent advances have led to therapeutic options becoming available for people with inherited retinal disease. In particular, gene therapy has been shown to hold great promise for slowing vision loss from inherited retinal disease. Recent studies suggest that gene therapy is likely to be most effective when implemented early in the disease process, making consideration of paediatric populations important. It is therefore necessary to have a comprehensive understanding of retinal imaging in children with inherited retinal diseases, in order to monitor disease progression and to determine which early retinal biomarkers may be used as outcome measures in future clinical trials. In addition, as many optometrists will review children with an inherited retinal disease, an understanding of the expected imaging outcomes can improve clinical care. This review focuses on the most common imaging modality used in research assessment of paediatric inherited retinal diseases: optical coherence tomography. Optical coherence tomography findings can be used in both the clinical and research setting. In particular, the review discusses current knowledge of optical coherence tomography findings in eight paediatric inherited retinal diseases - Stargardt disease, Bests disease, Leber's congenital amaurosis, choroideremia, RPGR related retinitis pigmentosa, Usher syndrome, X-linked retinoschisis and, Batten disease.
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:27Diabetic Retinopathy