Living with Renal dysplasia and retinal aplasia
A rare genetic condition, also called Senior-Loken syndrome, that affects the kidneys and the retina of the eye.
Understanding Renal dysplasia and retinal aplasia
Nephronophthisis causes fluid-filled cysts in the kidneys starting in childhood, which affect kidney function. It can lead to end-stage kidney disease later in childhood or in the teens. The eye condition affects the retina and causes vision problems. Some people have eye signs in the first few years of life, others later in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney cysts and chronic kidney disease
- Peeing and drinking more than usual
- Tiredness and weakness
- Progressive vision loss
- Sensitivity to light and shaky eye movements (nystagmus)
- Short stature
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 National Kidney Foundation 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
GARD says gene changes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene yet.
Also known as: loken senior syndrome; nephronophthisis with retinal dystrophy; renal dysplasia-retinal aplasia syndrome; renal-retinal syndrome; senior-loken syndrome; slsn
Patient organizations
- 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 dysplasia and retinal aplasia.
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