Living with Helicoid peripapillary chorioretinal degeneration
A rare inherited eye condition that slowly damages the back of the eye and can reduce central vision.
Understanding Helicoid peripapillary chorioretinal degeneration
It starts at birth or in infancy and affects both eyes. Lesions appear near the optic nerve and in the outer part of the back of the eye. Over time this can lead to loss of central vision. Some people also have a clouding of the lens at the front of the eye (anterior polar cataracts).
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, the condition can lead to:
- Gradual loss of central vision
- Damage to the retina in both eyes
- Lesions near the optic nerve
- Clouding of the lens (anterior polar cataract) in some people
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 TEAD1 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
Changes in the TEAD1 gene are linked to this condition. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: atrophia areata; helicoidal peripapillary chorioretinal degeneration; peripapillary chorioretinal degeneration, icelandic type; scra; sveinsson chorioretinal atrophy
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 Helicoid peripapillary chorioretinal degeneration.
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