Living with Autosomal dominant vitreoretinochoroidopathy
An inherited eye condition that affects the eye's gel, retina, and choroid, with vision from normal to severely reduced.
Understanding Autosomal dominant vitreoretinochoroidopathy
The eye differences can lead to vision that ranges from mildly reduced to lost, although some people see normally. Signs vary, even within a family. People may have a small cornea, high eye pressure (glaucoma), or clouding of the lens (cataract). A special eye exam can show a ring of extra coloring in the retina, which helps doctors diagnose it.
Signs & symptoms
GARD does not list common symptoms. The summary describes these eye features:
- Small, curved cornea (microcornea)
- Shallow space behind the cornea
- High eye pressure (glaucoma)
- Clouding of the lens (cataract)
- Ring of extra color in the retina
- White spots on the retina
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 BEST1 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 BEST1 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: advirc; autosomal dominant vitreoretinochoroidopathy with nanophthalmos; vitreoretinochoroidopathy; vitreoretinochoroidopathy with microcornea, glaucoma and cataract; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos
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 Autosomal dominant vitreoretinochoroidopathy.
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