Living with Bietti crystalline corneoretinal dystrophy
A genetic eye condition in which tiny crystal-like deposits build up in the retina and slowly reduce vision.
Understanding Bietti crystalline corneoretinal dystrophy
The deposits damage the retina and cause vision loss that worsens over time. People usually notice problems in their teens or twenties, such as less sharp vision, trouble seeing in dim light, and loss of side vision. Color vision may also be affected. Severity varies widely, even within a family. Most people keep some vision, usually in the center.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Night blindness (trouble seeing in dim light)
- Loss of side (peripheral) vision
- Less sharp vision (visual impairment)
- Crystal-like deposits in the retina
- Thinning of retina layers (atrophy)
- Crystals in the cornea
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CYP4V2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Invincible Vision may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Invincible Vision
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Invincible Vision
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CYP4V2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bcd; bietti crystalline dystrophy; bietti crystalline retinopathy; bietti tapetoretinal degeneration with marginal corneal dystrophy; bietti's crystalline dystrophy; bietti's crystalline retinopathy
Patient organizations
- Invincible VisionBietti crystalline corneoretinal dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Bietti crystalline corneoretinal dystrophy.
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