Living with Lowe syndrome
An inherited condition, almost only in males, that affects the eyes, brain, and kidneys, starting at birth.
Understanding Lowe syndrome
Babies are born with thick clouding of the lenses in both eyes (congenital cataracts). About half develop infantile glaucoma. Many have delayed development, with intellectual ability from normal to severely impaired. Most have weak muscle tone from birth, and kidney problems such as renal Fanconi syndrome often develop.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Clouding of the eye lenses (congenital cataracts)
- Weak muscle tone from birth
- Delayed development
- Kidney tube problems (renal Fanconi syndrome)
- Behavior problems and seizures
- Anxiety
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 brain and nervous system specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in OCRL 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
- Brain and nervous system specialists (neurologists); 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 Lowe Syndrome Association 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
It is caused by changes in the OCRL gene. It is inherited in an X-linked way.
Also known as: cerebro-oculorenal dystrophy; lowe disease; lowe oculo-cerebro-renal dystrophy; lowe oculo-cerebro-renal syndrome; lowe oculocerebrorenal dystrophy; lowe oculocerebrorenal syndrome
Patient organizations
- Lowe Syndrome AssociationLowe 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 Lowe syndrome.
Explore research for Lowe syndrome
Explore actively recruiting Lowe syndrome studies with HealthSpark.
Find actively recruiting studies for Lowe syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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