Bietti's crystalline dystrophy (BCD) is a rare genetic disorder that affects the retina, the layer of tissue at the back of the eye that senses light and sends visual information to the brain. The condition is characterized by the accumulation of crystal-like deposits in the retina, which gradually lead to vision loss.
BCD was first described by the Italian ophthalmologist Dr. G.B. Bietti in 1937. The disorder is most common in individuals of Asian descent, but it has been reported in people of other ethnicities as well. BCD is caused by mutations in the CYP4V2 gene, which provides instructions for making an enzyme that is involved in the breakdown of fatty acids.
Symptoms of BCD typically appear in young adulthood and can include night blindness, decreased visual acuity, and a loss of peripheral vision. As the disease progresses, the crystal-like deposits in the retina can become more widespread, leading to a more severe loss of vision. In some cases, BCD can also affect other parts of the body, such as the skin and hair, leading to hair loss and skin abnormalities.
Currently, there is no cure for BCD, and treatment options are limited to managing symptoms and providing supportive care. For example, people with BCD may benefit from low vision aids, such as magnifying glasses or special software that enlarges text on a computer screen.
Research is ongoing to develop new therapies for BCD, including gene therapy and stem cell therapy. In gene therapy, a healthy copy of the CYP4V2 gene is introduced into cells to replace the mutated gene. In stem cell therapy, stem cells are used to generate new retinal cells that can replace the damaged ones.
In conclusion, Bietti's crystalline dystrophy is a rare genetic disorder that affects the retina and can lead to vision loss. There is currently no cure for BCD, but research is ongoing to develop new therapies. People with BCD can benefit from low vision aids and should seek out resources and support from organizations such as the Bietti Foundation. With continued research and support, we can work towards improving the lives of those affected by this condition.