Bietti's Crystalline Dystrophy

On this page:

• Other names
• What is Bietti's Crystalline Dystrophy?
• What causes Bietti's Crystalline Dystrophy?
• Can Bietti's Crystalline Dystrophy be treated?
• Research
• Resources
• Medical literature

This information was developed by the National Eye Institute (NEI) to help patients and their families in searching for general information about Bietti's crystalline dystrophy. An eye care professional who has examined the patient's eyes and is familiar with his or her medical history is the best person to answer specific questions.

Other names

Bietti's crystalline corneoretinal dystrophy

What is Bietti's Crystalline Dystrophy?

Bietti's crystalline dystrophy (BCD) is an inherited eye disease named for Dr. G. B. Bietti, an Italian ophthalmologist, who described three patients with similar symptoms in 1937. The symptoms of BCD include: crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and visual field constriction. BCD is a rare disease and appears to be more common in people with Asian ancestry.

People with BCD have crystals in some of their white blood cells (lymphocytes) that can be seen by using an electron microscope. Researchers have been unable to determine exactly what substance makes up these crystalline deposits. Their presence does not appear to harm the patient in any other way except to affect vision.

What causes Bietti's Crystalline Dystrophy?

From family studies, we know that BCD is inherited primarily in an autosomal recessive fashion. This means that an affected person receives one nonworking gene from each of his or her parents. A person who inherits a nonworking gene from only one parent will be a carrier, but will not develop the disease. A person with BCD syndrome will pass on one gene to each of his or her children. However, unless the person has children with another carrier of BCD genes, the individual's children are not at risk for developing the disease. More about autosomal recessive inheritance.

In September 2000, NEI researchers reported that the BCD gene had been localized to chromosome #4. In this region of chromosome #4 there are hundreds of genes. Researchers are now looking for which of the genes in this region of chromosome #4 causes BCD. Finding the gene may shed light on the composition of the crystals found in the corneas of patients with BCD and on what causes the condition. More about finding disease genes.

Can Bietti's Crystalline Dystrophy Be Treated?

At this time, there is no treatment for BCD. Scientists hope that findings from gene research will be helpful in finding treatments for patients with BCD.

Research

Researchers at the National Eye Institute's Ophthalmic Genetics and Visual Function Branch, see patients with BCD. Patients who are interested in being evaluated may contact:

Meira R. Meltzer, MA, MS
Genetic Counselor
National Eye Institute
(301) 402-4175
meira.meltzer@nih.gov

Resources

Resources can be found in the National Eye Institute's Eye Health Organizations Database.

For additional information, you may also wish to contact a local library.

Medical Literature

For information on your topic, you may wish to conduct a search of the medical literature. The National Library of Medicine (NLM) coordinates PubMed, a computerized medical literature database. You can conduct your own free literature search by accessing PubMed through the Internet. For help on how to search PubMed and how to get journal articles, please see PubMed Help. You may also get assistance with a literature search at a local library.

Please keep in mind that articles in the medical literature are usually written in technical language. We encourage you to share articles with a health care professional who can help you understand them.