Living with Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
A rare genetic eye condition with an iris coloboma, retinal changes that worsen over time, vision loss and sometimes cataracts.
Understanding Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
People have a gap or notch in the colored part of both eyes (iris coloboma) and retinal changes that worsen over time, with marked vision loss. Some also have cloudy lenses (cataracts) from birth. It starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Notch or gap in the iris (coloboma)
- Cloudy lens from birth (cataract)
- Reduced clarity of vision
- Retinal thinning (atrophy)
- Iris stuck to the lens (posterior synechiae)
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 MIR204 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 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
Changes in the MIR204 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: retinal dystrophy and iris coloboma with or without cataract; retinal dystrophy and iris coloboma with or without congenital cataract
Patient organizations
- Prevent Blindness AmericaFamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome.
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