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[Familial exsudative vitreoretinopathy (FEVR) in childhood]
A E Laubichler1, P Laubichler2, D Zapp3
1Augenklinik, Klinikum rechts der Isar der Technischen Universität München, Ismaninger Str. 22, 81675, München, Deutschland. andrea.laubichler@gmx.net.
Summary
This case study details secondary optic disc neovascularization in familial exudative vitreoretinopathy (FEVR). Peripheral laser treatment successfully regressed neovascularization and improved vision in a young patient.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Familial exudative vitreoretinopathy (FEVR) is a rare genetic disorder characterized by abnormal retinal vascular development.
- Secondary neovascularization of the optic disc can be a sight-threatening complication in FEVR.
Observation:
- A 12-year-old girl presented with significantly decreased visual acuity in her right eye.
- Funduscopy revealed extensive fibrovascular neovascularization of the optic disc obscuring the macula.
- Angiography showed peripheral retinal ischemia and vascular anomalies in both eyes.
Findings:
- Peripheral laser photocoagulation of the ischemic retina was performed under general anesthesia.
- The treatment led to regression of the optic disc neovascularization.
- Visual acuity improved from 0.05 to 0.4 in the affected eye.
Implications:
- This case highlights the efficacy of peripheral laser treatment for secondary optic disc neovascularization in FEVR.
- Early intervention can preserve and improve visual function in patients with FEVR.
- Genetic testing identified the LRP5 gene mutation, confirming the diagnosis of FEVR.
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