Living With Bietti Crystalline Dystrophy: Challenges & Progress

Living Bietti

and Health

Living with Bietti Crystalline Dystrophy (BCD) is a difficult experience for those affected and their families. It is a rare inherited disorder characterized by corneal dystrophy, pigmentary retinopathy and progressive degeneration in the brain and nervous system. It is the leading cause of child blindness. Symptoms include night blindness, poor vision, eye inflammation, narrowing of visual field, difficulty walking, and difficulty breathing. It is incurable, but treatments can improve vision and progress.

Signs and Symptoms

The signs and symptoms of BCD can be challenging for those affected and their families as the condition progresses. The symptoms include night blindness, poor vision, eye inflammation, narrowing of visual field, difficulty walking, and difficulty breathing. Additionally, symptoms may include muscle wasting, tremors, seizures, numbness and tingling in the hands and feet, and difficulty concentrating.

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Diagnosis

To diagnose BCD, doctors use eye exams, genetic testing, imaging tests, and clinical evaluation. An eye exam will be used to check for signs of the disease in the eye. Genetic testing can be used to confirm the diagnosis, and imaging tests such as CT scans or MRIs can help check for changes in the brain and nervous system. Additionally, a clinical evaluation is used to assess for other signs of the disease.

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Treatment

There is no cure for BCD, but the treatments available aim to slow the progress of the disease and improve quality of life. Treatment may include medication to reduce inflammation and pain, vision aids to help with night blindness, physical and occupational therapy to help with muscle wasting and balance, and speech and swallowing therapy to help with swallowing and communication.

Management

Those living with BCD need to take extra precautions to protect their vision. This includes wearing sunglasses to protect the eyes from UV rays and avoiding activities that may be too strenuous. Additionally, it is important to maintain good nutrition and engage in physical activity to reduce wasted muscle, maintain balance, and improve quality of life.

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Living with Bietti Crystalline Dystrophy can be challenging, but with treatment and management there is still hope. It is important to speak to a medical profession to get the best advice and treatment to manage the symptoms of BCD. With the right treatment, those affected and their families can enjoy a better quality of life.

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