Living with Renal coloboma syndrome
A genetic condition, also called papillorenal syndrome, that affects kidney and eye development.
Understanding Renal coloboma syndrome
People often have small, underdeveloped kidneys, which can lead to end-stage kidney disease, when the kidneys can no longer filter waste well. They may also have a malformed optic nerve, sometimes with a gap (coloboma) in the retina. Vision effects range from none to severe. About 10% of children with small kidneys may have this syndrome. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small, underdeveloped kidneys
- Reduced kidney function
- Backflow of urine from the bladder (vesicoureteral reflux)
- Optic nerve differences
- Nearsightedness and vision problems
- Kidney cysts
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, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in PAX2 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); Kidney specialists (nephrologists)
- 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 American Association of Kidney Patients and other patient organizations
- 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
This condition is caused by changes in the PAX2 gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: cakut with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; optic coloboma, vesicoureteral reflux, and renal anomalies; optic nerve coloboma with renal disease
Patient organizations
- American Association of Kidney PatientsRenal coloboma syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Renal coloboma syndrome.
Explore research for Renal coloboma syndrome
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