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Multimodal imaging in CABP4-related retinopathy
Patrik Schatz1,2, Maram E A Abdalla Elsayed3, Arif O Khan4
1a Vitreoretinal Division, King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.
Ophthalmic Genetics
|June 22, 2017
Summary
Multimodal imaging reveals foveal thinning in CABP4-related retinopathy. Normal autofluorescence suggests inner retinal dysfunction, potentially treatable with gene therapy.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Imaging
Background:
- CABP4-related retinopathy is a rare genetic disorder affecting vision.
- Multimodal imaging findings for this condition have not been previously documented.
Purpose of the Study:
- To describe optical coherence tomography (OCT) and fundus autofluorescence findings in genetically confirmed cases of CABP4-related retinopathy.
Main Methods:
- Retrospective case series of five patients with confirmed CABP4 mutations.
- Analysis of OCT, fundus autofluorescence, and electroretinogram (ERG) data.
Main Results:
- Foveal thickness was reduced (175-212 micrometers) in all patients.
- Fundus autofluorescence imaging was unremarkable.
- All patients showed negative ERGs with variable cone and rod dysfunction, which remained stable over time.
Conclusions:
- Foveal thinning is a characteristic feature of CABP4 retinopathy.
- Normal autofluorescence suggests inner retinal dysfunction, indicating potential for gene therapy.
- Retinal dysfunction in CABP4 retinopathy appears to be stable.
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