Criswick-Schepens syndrome
=Criswick-Schepens Syndrome =
Criswick-Schepens Syndrome, also known as familial exudative vitreoretinopathy (FEVR), is a rare genetic disorder that affects the retina, the light-sensitive tissue at the back of the eye. This condition can lead to vision loss and is characterized by abnormal development of the retinal blood vessels.
Etiology[edit | edit source]
Criswick-Schepens Syndrome is primarily caused by mutations in genes involved in the development and maintenance of the retinal vasculature. The most commonly implicated genes include FZD4, LRP5, and NDP. These genes are crucial for the Wnt signaling pathway, which plays a significant role in angiogenesis and vascular stability.
Clinical Features[edit | edit source]
The clinical presentation of Criswick-Schepens Syndrome can vary widely, even among members of the same family. Common symptoms include:
- Peripheral retinal avascularity
- Retinal detachment
- Vitreous hemorrhage
- Neovascularization
Patients may present with decreased vision, strabismus, or leukocoria. The severity of the disease can range from asymptomatic to complete blindness.
Diagnosis[edit | edit source]
Diagnosis of Criswick-Schepens Syndrome is based on clinical examination and imaging studies. Key diagnostic tools include:
- Fundus examination
- Fluorescein angiography
- Optical coherence tomography (OCT)
Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.
Management[edit | edit source]
Management of Criswick-Schepens Syndrome focuses on preserving vision and preventing complications. Treatment options may include:
- Laser photocoagulation to prevent retinal detachment
- Vitrectomy for vitreous hemorrhage
- Anti-VEGF therapy to reduce neovascularization
Regular follow-up with an ophthalmologist is essential to monitor disease progression and adjust treatment as necessary.
Prognosis[edit | edit source]
The prognosis for individuals with Criswick-Schepens Syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early detection and intervention can improve visual outcomes and reduce the risk of complications.
Genetic Counseling[edit | edit source]
Since Criswick-Schepens Syndrome is a genetic disorder, genetic counseling is recommended for affected individuals and their families. This can help assess the risk of transmission to offspring and provide information on family planning options.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic and molecular mechanisms underlying Criswick-Schepens Syndrome. Advances in gene therapy and novel pharmacological treatments hold promise for improving outcomes for patients with this condition.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Criswick-Schepens syndrome is a rare disease.
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