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.
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.
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.
Keeping on Top of Your Condition
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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
The following organizations may be able to provide additional
information on Bietti's crystalline dystrophy:
National Organization for Rare Disorders, Inc.
(NORD)
P.O. Box 8923
New Fairfield, CT
06812-8923
1-800-999-6673
(203) 746-6518
Fax: (203)
746-6481
http://www.rarediseases.org/
The Foundation Fighting Blindness
11435 Cronhill
Dr
Owings Mills, MD
21117
1-800-683-5555
410-568-0150
Fax: 410-363-2393
http://www.blindness.org
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