Lowe syndrome is a rare genetic disorder that affects your child’s eyes, brain and kidneys. It’s an X-linked condition, so it mainly affects males. It can cause vision problems, developmental delays and kidney disease. While there’s no cure, treatment can help manage symptoms and support your child’s health and development.
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Lowe syndrome is a rare genetic condition that mainly involves your child’s eyes, brain and kidneys. Most babies are born with cataracts, and many later develop glaucoma and vision loss. The condition can also interfere with brain development, which can lead to delays in walking and learning differences. You may notice kidney problems by the time your baby turns 1. These issues may become more severe over time. They can lead to end-stage kidney disease in young adulthood.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy
Lowe syndrome almost always occurs in males because it’s an X-linked genetic disorder. It’s very rare for females to be born with symptoms. But most girls who are carriers will have specific changes that their healthcare provider can see on an eye exam by the time they’re 15 years old.
The condition affects about 1 in 500,000 people worldwide. Another name for it is oculocerebrorenal syndrome (pronounced “ok-yuh-loh-suh-REE-broh-REEN-uhl SIN-drohm”).
There’s no cure for Lowe syndrome. Treatment can help manage symptoms, prevent complications and support your child’s development.
Learning your child has a rare condition can feel overwhelming. Lean on your child’s healthcare team. They’ll create a care plan to help your child reach their fullest potential.
Lowe syndrome is known for a group of symptoms that involve three parts of your child’s body: their eyes, brain and kidneys.
Most babies with Lowe syndrome are born with cataracts in both eyes. Other eye symptoms may include:
Symptoms that affect your child’s brain and nervous system may include:
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Almost all children with Lowe syndrome develop a kidney condition called Fanconi syndrome. It causes their kidneys to lose important nutrients and minerals into their pee instead of returning these substances to their bloodstream.
Kidney symptoms may include:
Lowe syndrome can involve many other parts of your child’s body. So, it may also cause:
Not every child has the same symptoms. Some children have milder symptoms. Others have more severe health concerns.
A genetic change (variation) in the OCRL gene causes Lowe syndrome. This gene provides instructions for making a protein that helps cells move and recycle certain substances. When the protein doesn’t work as it should, it affects many tissues throughout your child’s body. It especially affects their eyes, brain and kidneys.
In 2 out of 3 cases, the gene change has been inherited from a biological parent who carries it. Sometimes, the change happens for the first time without a family history of the condition.
Lowe syndrome is an X-linked condition. That means the affected gene is on the X chromosome, so it mostly affects males. If Lowe syndrome is in your family, you may want to consider genetic counseling if you’re planning to have biological children.
Lowe syndrome can lead to complications as your child grows. These may include:
Your healthcare provider may suspect Lowe syndrome if your baby is born with cataracts in both eyes. They’ll also look for low muscle tone.
To confirm the diagnosis, your child’s provider will do a physical exam and an eye exam.
Tests may include:
Because Lowe syndrome involves several areas of the body, your child may also see specialists. These doctors can check their vision, kidney health and development.
There’s no cure for Lowe syndrome. Care focuses on treating symptoms and replacing nutrients. It also helps support your child’s growth and development.
Treatment may include:
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Your child’s treatment plan will depend on their symptoms. It may change as they grow. Regular visits with specialists can help track changes in your child’s eyes, kidneys, growth and development.
Contact your child’s provider if you notice:
Lowe syndrome is a lifelong condition. Symptoms and their severity vary from one child to another. Early diagnosis, ongoing medical care and supportive therapies can make a meaningful difference in your child’s comfort, abilities and quality of life.
Over time, your child’s care needs may change. Their providers will adjust treatment based on their health and symptoms.
Life expectancy varies depending on the severity of the condition and its complications. Many people with Lowe syndrome develop kidney disease over time, which is one of the biggest factors affecting long-term health. Kidney failure is the most common cause of early death. Serious infections, dehydration and other complications can also affect life expectancy.
But advances in medical care have improved treatment options. Your child’s healthcare team can help you understand what to expect based on their individual health.
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Learning your child has a rare condition like Lowe syndrome can bring a range of emotions. You don’t have to face it alone. Your child’s healthcare team will work with you to build a care plan that supports their health and development. While there’s no cure for Lowe syndrome, early treatment, ongoing therapies and regular follow-up can help your child receive the care they need at every stage of life.
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Cleveland Clinic’s health articles are based on evidence-backed information and review by medical professionals to ensure accuracy, reliability and up-to-date clinical standards.
Cleveland Clinic’s health articles are based on evidence-backed information and review by medical professionals to ensure accuracy, reliability and up-to-date clinical standards.
Do certain health conditions seem to run in your family? Are you ready to find out if you’re at risk? Cleveland Clinic’s genetics team can help.
