Living with Juvenile cataract-microcornea-renal glucosuria syndrome
An extremely rare inherited condition with childhood cataracts, small corneas, and sugar in the urine.
Understanding Juvenile cataract-microcornea-renal glucosuria syndrome
It has been reported in a single Swiss family. People have cataracts in childhood, small corneas in both eyes (microcornea), and glucose in the urine (renal glucosuria), without other kidney tubule problems. It is noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Clouding of the lens (cataract)
- Small corneas (microcornea)
- Sugar in the urine (renal glucosuria)
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 SLC16A12 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 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
Changes in the SLC16A12 gene are listed. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: cataract 47; cataract 47, juvenile, with microcornea; cataract, juvenile, with microcornea; juvenile cataract-microcornea-renal glycosuria syndrome
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 Juvenile cataract-microcornea-renal glucosuria syndrome.
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