Living with Congenital blue dot cataract
An eye condition with bluish or whitish cloudy areas in the lens, present at birth or appearing early in childhood.
Understanding Congenital blue dot cataract
It may be present at birth or develop in early childhood, but may not be diagnosed until adulthood. It usually affects both eyes and gets worse over time. Infants can have no symptoms, or may have poor vision from birth, shaky eye movements (nystagmus) or lazy eye (amblyopia).
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Cloudy bluish or whitish areas in the eye lens
- Usually affects both eyes
- Reduced vision
- Shaky eye movements (nystagmus)
- Lazy eye (amblyopia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 The Vision of Children Foundation
- 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
It can be caused by changes in several genes, including CRYBB2, CRYGD and MAF. It is inherited in an autosomal dominant manner.
Also known as: blue-dot cataract; cataracts, congenital, cerulean; cerulean cataract
Patient organizations
- The Vision of Children FoundationCongenital blue dot cataract · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital blue dot cataract.
Explore research for Congenital blue dot cataract
Explore actively recruiting Congenital blue dot cataract studies with HealthSpark.
Find actively recruiting studies for Congenital blue dot cataract with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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