Living with Renal hypomagnesemia 5 with ocular involvement
A rare genetic kidney condition with magnesium and calcium loss, kidney calcium deposits, and serious eye problems.
Understanding Renal hypomagnesemia 5 with ocular involvement
It also causes calcium deposits in both kidneys (nephrocalcinosis) and kidney function that slowly worsens. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney stones
- Blood in the urine
- Nearsightedness (myopia)
- Shaky eye movements (nystagmus)
- Retina and eye structure differences (coloboma)
- Groin hernia
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 CLDN19 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
This condition is caused by changes in the CLDN19 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; fhhnc with severe ocular involvement; fhhncoi; hypercalciuria-bilateral macular coloboma syndrome; hypomagnesemia 5, renal, with or without ocular involvement
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 hypomagnesemia 5 with ocular involvement.
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