Criswick–Schepens syndrome

Criswick–Schepens syndrome, also known as familial exudative vitreoretinopathy (FEVR), is a rare genetic disorder that affects the development of the eye's retina. This condition is characterized by an abnormal growth of the blood vessels in the retina, leading to progressive vision loss. The syndrome was first described by Criswick and Schepens in the 1960s, highlighting its primary features as a familial disease with a significant impact on the vitreous body and retina.

Symptoms and Diagnosis

The symptoms of Criswick–Schepens syndrome can vary widely among affected individuals, ranging from mild to severe. Common symptoms include visual impairment, strabismus (misalignment of the eyes), and leukocoria (an abnormal white reflection from the retina). In severe cases, it can lead to retinal detachment and blindness.

Diagnosis of Criswick–Schepens syndrome is primarily based on a detailed eye examination, including fundoscopy to observe the back of the eye. Advanced imaging techniques such as fluorescein angiography and optical coherence tomography (OCT) may also be employed to assess the extent of retinal abnormalities.

Genetics

Criswick–Schepens syndrome is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. However, there is a wide range of variability in how the disease manifests, even among members of the same family. Mutations in several genes, including FZD4, LRP5, and NDP, have been identified as causes of the syndrome. These genes are involved in the Wnt signaling pathway, which plays a crucial role in the development and maintenance of blood vessels in the retina.

Treatment

There is no cure for Criswick–Schepens syndrome, but treatment is available to manage its symptoms and prevent progression. Treatment options may include laser therapy to seal off leaking blood vessels, cryotherapy to freeze and destroy abnormal blood vessels, and scleral buckling or vitrectomy surgery to repair a detached retina. Regular monitoring by an ophthalmologist is essential to manage the condition effectively.

Prognosis

The prognosis for individuals with Criswick–Schepens syndrome varies depending on the severity of the retinal abnormalities and the effectiveness of the treatment. Early detection and treatment can help preserve vision and improve the quality of life for those affected by the syndrome.

Criswick–Schepens syndrome Resources
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