Living with Retinal cone dystrophy 4
A genetic eye condition affecting the cone cells of the retina, leading to slowly worsening vision and sensitivity to light.
Understanding Retinal cone dystrophy 4
Cone cells help us see detail and color. Changes in this condition can lead to a slow loss of vision and sensitivity to light (photophobia).
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Slowly worsening vision
- Sensitivity to light (photophobia)
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
It is caused by changes in the CACNA2D4 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cacna2d4 cone dystrophy; cone dystrophy caused by mutation in cacna2d4; rcd4; retinal cone dystrophy type 4
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 Retinal cone dystrophy 4.
Explore research for Retinal cone dystrophy 4
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- Eligibility is confirmed by the study team
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