Bietti's crystalline dystrophy

Bietti's Crystalline Dystrophy (BCD) is a rare, inherited eye disorder characterized by the formation of crystal deposits in the cornea and retina. These deposits can lead to progressive vision loss and eventually blindness. The condition was first described by Italian ophthalmologist G. B. Bietti in 1937.

Etiology

BCD is caused by mutations in the CYP4V2 gene, which is involved in the metabolism of fatty acids. The exact mechanism by which these mutations lead to the formation of crystal deposits is not fully understood. However, it is believed that the mutations disrupt the normal function of the CYP4V2 protein, leading to an accumulation of lipids in the eye.

Symptoms

The primary symptom of BCD is the presence of yellow-white crystal deposits in the cornea and retina. These deposits can be seen during an eye examination. Other symptoms include progressive vision loss, night blindness, and a decrease in peripheral vision. In some cases, patients may also experience photophobia, or sensitivity to light.

Diagnosis

Diagnosis of BCD is based on the presence of characteristic crystal deposits in the eye, as well as genetic testing to identify mutations in the CYP4V2 gene. Other tests, such as electroretinography and optical coherence tomography, may also be used to assess the extent of retinal damage.

Treatment

There is currently no cure for BCD. Treatment is focused on managing symptoms and slowing the progression of the disease. This may include the use of low-vision aids, such as magnifying glasses and large-print materials, as well as counseling and support for coping with vision loss.

Prognosis

The prognosis for individuals with BCD varies. Some individuals may maintain functional vision into their 50s or 60s, while others may become legally blind by their 30s or 40s. The rate of progression can vary widely, even among individuals with the same mutation.

See also

• Retinal diseases
• Genetic disorders
• Ophthalmology