Exudative retinopathy, familial

Exudative Retinopathy, Familial is a rare genetic disorder characterized by the abnormal leakage of fluid from the blood vessels into the retina, leading to progressive vision loss. This condition falls under the broader category of retinal diseases, which affect the thin layer of tissue on the inside back wall of the eye. Familial exudative retinopathy is particularly notable for its genetic basis, with several genes implicated in its pathogenesis.

Causes and Genetics

Familial exudative retinopathy is caused by mutations in several genes, including but not limited to FZD4 (Frizzled-4), LRP5 (Low-density lipoprotein receptor-related protein 5), and NDP (Norrie disease protein). These genes are involved in the Wnt signaling pathway, which plays a crucial role in the development of blood vessels in the retina. Mutations in these genes disrupt normal vascular development, leading to the leakage of fluid under the retina.

Symptoms

The primary symptom of familial exudative retinopathy is progressive vision loss, which can vary in severity among affected individuals. Other symptoms may include strabismus (misalignment of the eyes), amblyopia (lazy eye), and the presence of floating spots or flashes of light in the field of vision. In severe cases, retinal detachment may occur, leading to significant vision loss or blindness.

Diagnosis

Diagnosis of familial exudative retinopathy involves a comprehensive eye examination, including visual acuity tests, fundus photography, and fluorescein angiography. Optical coherence tomography (OCT) may also be used to provide detailed images of the retina, allowing for the assessment of fluid accumulation and the integrity of the retinal structure.

Treatment

Treatment options for familial exudative retinopathy are limited and primarily aimed at managing symptoms and preventing further vision loss. Laser photocoagulation therapy may be used to seal leaking blood vessels and prevent retinal detachment. In some cases, cryotherapy, which involves freezing the area around the leaking vessels, may also be effective. Vitrectomy surgery may be necessary for individuals with retinal detachment.

Prognosis

The prognosis for individuals with familial exudative retinopathy varies depending on the severity of the condition and the effectiveness of treatment. Early detection and treatment are crucial for preserving vision and preventing severe complications.

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