Hereditary Fundus Dystrophy: Discussion on a Genetic Disease at Santiniketan Medical College and Hospital

Hereditary fundus dystrophy (HFD) is a group of genetic eye disorders that affect the retina and choroid, the layers at the back of the eye responsible for vision. These conditions are often inherited from parents and can cause progressive vision loss over time.

Types of Hereditary Fundus Dystrophy

There are numerous types of HFD, each with its unique characteristics and symptoms. Some common examples include:

Retinitis pigmentosa (RP): This is one of the most well-known types of HFD, characterized by the degeneration of rod cells, which are responsible for night vision. As the disease progresses, it can also affect cone cells, leading to vision loss in bright light.

Stargardt disease: This condition primarily affects the macular area of the retina, which is responsible for central vision. It is often caused by mutations in the ABCA4 gene.

Best disease: This is a rare hereditary condition that causes a central, yellowish lesion to appear on the retina. It is often associated with a mutation in the BEST1 gene.

Choroideremia: This condition affects the choroid, a layer of tissue beneath the retina. It causes progressive night blindness and vision loss.

Symptoms of Hereditary Fundus Dystrophy

The symptoms of HFD can vary depending on the specific type of condition. However, common symptoms may include:

• Night blindness
• Tunnel vision
• Blurred vision
• Color vision problems
• Photophobia (sensitivity to light)
• Loss of peripheral vision
• Diagnosis and Treatment

Diagnosing HFD often involves a comprehensive eye exam, including dilated pupil examination, visual field testing, and optical coherence tomography (OCT). Genetic testing may also be performed to confirm the diagnosis.

Unfortunately, there is currently no cure for most types of HFD. However, treatment may focus on slowing the progression of the disease and managing symptoms.

This may include:

Vitamin supplements

Gene therapy (in some cases)

Low vision aids

Vision rehabilitation

If you or a family member are experiencing symptoms of HFD, it is important to consult with an eye doctor for evaluation and diagnosis. Early detection and treatment can help to slow the progression of the disease and improve quality of life.

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