
Living with Cone-rod dystrophy 5
A type of cone-rod dystrophy, an eye condition in which the retina's light-sensing cells slowly break down.
Understanding Cone-rod dystrophy 5
In cone-rod dystrophy, the light-sensing cells of the retina gradually break down. First signs often appear in childhood: less sharp vision and light sensitivity. Color vision problems, central blind spots, side vision loss and night blindness follow, and shaky eye movements may develop.
Signs & symptoms
GARD doesn't list a separate symptom list for this type. The general description lists these:
- Less sharp vision
- Sensitivity to light (photophobia)
- Color vision problems
- Blind spots in the center of vision
- Loss of side vision
- Night blindness
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 Prevent Blindness America
- 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 doesn't name a gene here. This type is inherited in an autosomal dominant pattern.
Also known as: cone-rod dystrophy caused by mutation in pitpnm3; cone-rod dystrophy type 5; cord5; pitpnm3 cone-rod dystrophy
Patient organizations
- Prevent Blindness AmericaCone-rod dystrophy 5 · United States
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