Main Image

About Bietti crystalline dystrophy

What is Bietti crystalline dystrophy?

Bietti crystalline dystrophy is a rare, inherited disorder that affects the eyes. It is characterized by the presence of yellowish-white crystals in the retina and choroid of the eye, which can lead to progressive vision loss. Other symptoms may include night blindness, decreased peripheral vision, and sensitivity to light. There is currently no cure for Bietti crystalline dystrophy, but treatments are available to help manage the symptoms.

What are the symptoms of Bietti crystalline dystrophy?

The symptoms of Bietti crystalline dystrophy can vary from person to person, but typically include:

- Progressive vision loss

- Night blindness

- Photophobia

- Retinal degeneration

- Retinal pigmentary changes

- Cataracts

- Corneal dystrophy

- Skin changes, including yellow-white crystals in the skin

- Abnormalities of the bones and joints

- Abnormalities of the teeth

- Abnormalities of the nails

- Abnormalities of the hair

- Abnormalities of the sweat glands

- Abnormalities of the liver and kidneys

- Abnormalities of the pancreas

- Abnormalities of the endocrine system

- Abnormalities of the nervous system

What are the causes of Bietti crystalline dystrophy?

Bietti crystalline dystrophy is a rare genetic disorder caused by mutations in the CYP4V2 gene. This gene provides instructions for making an enzyme called cytochrome P450 4V2, which is involved in the breakdown of fatty acids. Mutations in this gene lead to the accumulation of fatty substances in the eyes, skin, and other tissues, resulting in the signs and symptoms of Bietti crystalline dystrophy.

What are the treatments for Bietti crystalline dystrophy?

Currently, there is no known cure for Bietti crystalline dystrophy. Treatment focuses on managing the symptoms and slowing the progression of the disease. Treatment options may include:

• Low vision aids, such as magnifying glasses, to help with vision loss

• Surgery to remove cataracts

• Laser treatments to reduce the risk of retinal detachment

• Vitamin A supplements to help slow the progression of the disease

• Regular eye exams to monitor the progression of the disease

• Physical therapy to help maintain mobility

• Genetic counseling to help families understand the disease and its implications

What are the risk factors for Bietti crystalline dystrophy?

1. Genetic mutation: Bietti crystalline dystrophy is caused by a mutation in the CYP4V2 gene.

2. Age: The condition usually begins in childhood or adolescence, but can also occur in adulthood.

3. Ethnicity: Bietti crystalline dystrophy is more common in people of Asian descent.

4. Family history: People with a family history of Bietti crystalline dystrophy are at an increased risk of developing the condition.

Is there a cure/medications for Bietti crystalline dystrophy?

At this time, there is no cure for Bietti crystalline dystrophy. However, there are medications and treatments available to help manage the symptoms. These include medications to reduce inflammation, eye drops to reduce dryness, and vitamins and supplements to help maintain eye health. Additionally, low vision aids, such as magnifiers and special lighting, can help improve vision.