Living with Severe early-childhood-onset retinal dystrophy
An inherited eye condition with night blindness from birth, slowly worsening retina damage, and eye shaking.
Understanding Severe early-childhood-onset retinal dystrophy
It includes slowly worsening retinal damage and nystagmus (involuntary eye movements). Best-corrected sharpness of vision can reach 0.3 in the first decade and may hold into the second decade. GARD notes blindness is often complete by age 30.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Night blindness
- Reduced sharpness of vision
- Involuntary eye movements (nystagmus)
- Loss of side vision
- Abnormal color vision
- Retina degeneration
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 ABCA4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
It is caused by changes in the ABCA4 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: abca4-related stargardt disease 1; cngb3-related stargardt disease 1; early-onset severe retinal dystrophy; eosrd; juvenile onset macular degeneration; macular dystrophy with flecks, type 1
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 Severe early-childhood-onset retinal dystrophy.
Explore research for Severe early-childhood-onset retinal dystrophy
Explore actively recruiting Severe early-childhood-onset retinal dystrophy studies with HealthSpark.
Find actively recruiting studies for Severe early-childhood-onset retinal dystrophy 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 Severe early-childhood-onset retinal dystrophy 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 Severe early-childhood-onset retinal dystrophy
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 Severe early-childhood-onset retinal dystrophy 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.