Living with Cataract 46 juvenile-onset
An early-onset eye condition with cloudy lenses and heart rhythm problems, caused by changes in the LEMD2 gene.
Understanding Cataract 46 juvenile-onset
GARD lists a heart rhythm problem (arrhythmia) among its common signs, along with cataract that starts in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataract that starts at a young age (juvenile cataract)
- Heart rhythm problems (arrhythmia)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
A change in the LEMD2 gene causes this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy; cataracts, autosomal recessive; ctrct46; early-onset non-syndromic cataract caused by mutation in lemd2; juvenilae cataract hutterite type; lemd2 early-onset non-syndromic 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 Cataract 46 juvenile-onset.
Explore research for Cataract 46 juvenile-onset
Explore actively recruiting Cataract 46 juvenile-onset studies with HealthSpark.
Find actively recruiting studies for Cataract 46 juvenile-onset 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Cataract 46 juvenile-onset studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Cataract 46 juvenile-onset
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Cataract 46 juvenile-onset experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.