Living with Congenital total cataract
A rare eye condition in which the lens is cloudy throughout in both eyes from birth or early childhood.
Understanding Congenital total cataract
It is present at birth or early childhood and usually does not change over time. Some people also have changes in the front of the eye, gaps in eye structures (colobomas), eye shaking (nystagmus), a small cornea or small eyes, or nearsightedness. It doesn't usually affect other parts of the body.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Cloudy lens in both eyes
- Eye shaking (nystagmus)
- Gaps in eye structures (colobomas)
- Small cornea or small eyes
- Nearsightedness
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 rare disease patient organizations for support
- 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
GARD says changes in genes cause this condition. It can be inherited in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: cataract, total congenital with posterior sutural opacities in heterozygotes; congenital complete cataract; total early-onset cataract
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital total cataract.
Explore research for Congenital total cataract
Explore actively recruiting Congenital total cataract studies with HealthSpark.
Find actively recruiting studies for Congenital total 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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