Living with Snowflake vitreoretinal degeneration
A genetic eye condition with snowflake-like deposits in the retina and cataracts.
Understanding Snowflake vitreoretinal degeneration
People also have changes in the gel inside the eye (vitreous) and cataracts. It has been described in several families. It usually starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Snowflake-like deposits in the retina
- Cataracts (clouded lens)
- Changes in the cornea (corneal guttata)
- Retinal detachment (less common)
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 KCNJ13 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
GARD lists changes in the KCNJ13 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: snowflake retinal degeneration; svd
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 Snowflake vitreoretinal degeneration.
Explore research for Snowflake vitreoretinal degeneration
Explore actively recruiting Snowflake vitreoretinal degeneration studies with HealthSpark.
Find actively recruiting studies for Snowflake vitreoretinal degeneration 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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