What is FEVR?
Familial Exudative Vitreoretinopathy (FEVR) is a retinal vascular disorder that affects the development of blood vessels in the retina. The retina is the light-sensitive tissue at the back of the eye that is essential for vision.
In individuals with CTNNB1 Syndrome, FEVR is one of the most common and clinically significant medical concerns. Changes in the CTNNB1 gene disrupt the Wnt signaling pathway, which plays a critical role in retinal blood vessel development. As a result, portions of the retina may not receive an adequate blood supply, potentially leading to retinal traction, retinal detachment, vision loss, and blindness if left untreated.
The good news is that early detection and treatment can significantly reduce the risk of severe vision loss.
Why is FEVR Important?
FEVR can progress silently for years without obvious symptoms.
Recent research has shown that individuals with CTNNB1 Syndrome may have retinal abnormalities requiring treatment despite repeatedly normal dilated eye examinations. Advanced retinal imaging, such as fluorescein angiography, can identify disease that may otherwise go undetected.
Because untreated FEVR can lead to retinal detachment and permanent blindness, regular screening by a retinal specialist familiar with FEVR is recommended.
Possible Signs & Symptoms
FEVR severity varies widely. Some individuals have no noticeable vision concerns, while others experience significant retinal disease.
Possible signs and symptoms include:
- Reduced vision
- Nearsightedness (myopia)
- Strabismus (eye misalignment)
- Decreased depth perception
- Poor visual tracking
- Leukocoria (white pupil reflex)
- Retinal folds
- Retinal detachment
- Blind spots or peripheral vision loss
- Complete vision loss in severe cases
Many patients with CTNNB1 Syndrome also experience:
- Strabismus
- Refractive errors
- Cortical visual impairment
- Delayed visual development
Importantly, significant retinal disease may be present even when a child does not appear to have visual symptoms.
Screening Recommendations
Every individual with CTNNB1 Syndrome should be evaluated for FEVR.
Because retinal abnormalities can be missed on routine eye examinations, evaluation by a pediatric retina specialist using Fluorescein Angiography is strongly recommended.
What is Fluorescein Angiography?
Fluorescein angiography is a specialized imaging test that allows ophthalmologists to visualize retinal blood vessels in detail.
A fluorescent dye is injected into a vein and photographs are taken as the dye circulates through the retinal vasculature. This test can identify areas of incomplete vascularization and retinal abnormalities that may not be visible during a routine eye exam.
Treatment
Treatment depends on the severity and stage of disease. Options may include:
Observation
Laser Photogoagulation
Cryotherapy
Surgical Intervention
Advanced disease with retinal traction or retinal detachment may require vitreoretinal surgery.
Early treatment generally offers the best opportunity to preserve vision.
References
Bedoukian EC, Forbes G, Scoles D. Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome. JAMA Ophthalmology. 2024;142(9):874-878.
Huang L, Lu J, Wang Y, Sun L, Ding X. Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations. Investigative Ophthalmology & Visual Science. 2023;64(2):18.
Requejo Figueroa GA, Morgan DI, Jardine GJ, Young MP, Hwang ES. Utility of Fluorescein Angiography for Early Detection of Familial Exudative Vitreoretinopathy in Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects Due to CTNNB1 Variants. Journal of Pediatric Ophthalmology and Strabismus. 2025;62(3):166-172.
CTNNB1 Connect & Cure. CTNNB1 and the Eyes (Presentation by Drew Scoles, MD, PhD). 2025.
This page is intended for educational purposes only and should not replace medical advice from a qualified healthcare provider. If you suspect your child may have symptoms of tethered spinal cord, please consult your medical team.