Exudative retinopathy familial, autosomal recessive

Exudative Retinopathy Familial, Autosomal Recessive is a rare genetic disorder characterized by the abnormal leakage of fluid from the blood vessels in the retina, leading to retinal detachment and potential vision loss. This condition falls under the broader category of retinal diseases, specifically targeting the retinal vasculature and its integrity. The autosomal recessive inheritance pattern means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Causes

Exudative Retinopathy Familial, Autosomal Recessive is caused by mutations in specific genes that are crucial for the development and maintenance of the retinal blood vessels. While the exact genes involved can vary, mutations in the LRP5 (Low-density lipoprotein receptor-related protein 5) and FZD4 (Frizzled-4) genes are commonly implicated. These genes play significant roles in the Wnt signaling pathway, which is essential for vascular development in the retina.

Symptoms

The primary symptom of this condition is the gradual loss of vision, which can range from mild to severe. Other symptoms may include:

• Floaters or flashes of light
• Blurring of vision
• Difficulty with night vision
• Peripheral vision loss

Diagnosis

Diagnosis of Exudative Retinopathy Familial, Autosomal Recessive involves a comprehensive eye examination, including:

• Fundoscopy to examine the back of the eye
• Fluorescein angiography to visualize blood flow in the retina
• Optical coherence tomography (OCT) to obtain detailed images of the retina

Genetic testing is also crucial for confirming the diagnosis and understanding the inheritance pattern, which can help in family planning and management of the condition.

Treatment

There is no cure for Exudative Retinopathy Familial, Autosomal Recessive, but treatment focuses on managing symptoms and preventing further vision loss. Treatment options may include:

• Laser therapy to seal leaking blood vessels
• Cryotherapy to freeze and stabilize areas of the retina
• Surgical intervention, such as vitrectomy or scleral buckle, to repair retinal detachment

Prognosis

The prognosis for individuals with Exudative Retinopathy Familial, Autosomal Recessive varies depending on the severity of the condition and the effectiveness of the treatment. Early detection and treatment are crucial for preserving vision.

See Also

• Retinal detachment
• Genetic disorders
• Vision loss

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