Exudative retinopathy familial, autosomal dominant

Exudative Retinopathy Familial, Autosomal Dominant (ERFAD) is a rare genetic disorder affecting the retina of the eye, characterized by the leakage of fluid under the retina, leading to retinal detachment and potential vision loss. This condition falls under the broader category of retinopathies, which are disorders affecting the retina, the light-sensitive tissue at the back of the eye responsible for receiving and organizing visual information.

Causes

ERFAD is caused by mutations in specific genes inherited in an autosomal dominant pattern. This means that only one copy of the affected gene, inherited from either parent, is sufficient to cause the disorder. The exact genes involved can vary among families. These genetic mutations affect the normal development and function of the retinal blood vessels, leading to the leakage of fluid and subsequent retinal damage.

Symptoms

Symptoms of ERFAD can vary widely among affected individuals, even within the same family. Common symptoms include:

• Visual impairment or vision loss
• Floaters or flashing lights
• Distorted vision (metamorphopsia)
• Progressive deterioration of the peripheral and central vision

Early detection and treatment are crucial in managing the condition and preventing severe vision loss.

Diagnosis

Diagnosis of ERFAD 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 may also be recommended to identify the specific mutation causing the condition, which can be helpful for family planning and understanding the risk of passing the condition to offspring.

Treatment

There is no cure for ERFAD, but treatment options are available to manage symptoms and prevent progression. Treatment may include:

• Laser photocoagulation to seal leaking blood vessels
• Vitrectomy to remove blood or scar tissue from the eye
• Cryotherapy to freeze and repair areas of retinal detachment

Regular monitoring and follow-up care with an ophthalmologist are essential for individuals with ERFAD to manage their condition effectively.

Prognosis

The prognosis for individuals with ERFAD varies depending on the severity of the retinal damage and the effectiveness of treatment. Early detection and intervention can significantly improve outcomes and help preserve vision.