Living with Cone dystrophy with supernormal rod response
An inherited retina condition starting in childhood or the teens with poor sharp vision, light sensitivity and color vision problems.
Understanding Cone dystrophy with supernormal rod response
It starts in the first or second decade of life. It causes poor sharpness of vision from a central blind spot, light sensitivity and severe color vision problems, and sometimes shaky eye movements. Night blindness usually develops later but can show up in childhood. An eye test (ERG) shows a typical pattern.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Poor sharpness of vision
- Central blind spot
- Sensitivity to light (photophobia)
- Severe color vision problems
- Night blindness
- Shaky eye movements (nystagmus), sometimes
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 KCNV2 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 KCNV2 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cdsrr; cone dystrophy with supernormal rod electroretinogram; cone dystrophy with supernormal rod erg; cone dystrophy with supernormal rod responses; cone dystrophy with supernormal scotopic electroretinogram; retinal cone dystrophy type 3b
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 Cone dystrophy with supernormal rod response.
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