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Lowe syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Lowe Syndrome

Lowe syndrome is a rare genetic condition that primarily affects the eyes, brain, and kidneys, occurring almost exclusively in males due to an X-linked inheritance pattern.

Overview

Lowe syndrome is an uncommon condition with an estimated prevalence of 1 in 500,000 people. It is a disorder that primarily affects the eyes, brain, and kidneys. The condition occurs almost exclusively in males.

Symptoms & Clinical Features

Individuals with Lowe syndrome present with a range of symptoms affecting multiple organ systems:

Eye Abnormalities

  • Infants are typically born with thick clouding of the lenses in both eyes, known as congenital cataracts, often accompanied by other eye abnormalities that can impair vision.
  • About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes.

Neurological & Developmental Issues

  • Many individuals experience delayed development, with intellectual ability ranging from normal to severely impaired.
  • Behavioral problems and seizures have been reported in children with this condition.
  • Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, breathing problems, and delayed development of motor skills such as sitting, standing, and walking.

Kidney (Renal) Abnormalities

  • Kidney abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome.
  • In renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream; instead, these nutrients are excreted in the urine.
  • These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis).
  • A loss of salts and nutrients may impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs.
  • Progressive kidney problems in older children and adults can lead to life-threatening renal failure and end-stage renal disease (ESRD).

Causes & Genetics

Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the cell membrane. This enzyme is also involved in the regulation of the actin cytoskeleton, a network of fibers that makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.

Some mutations in the OCRL gene prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. Because the OCRL enzyme is present throughout the body, it is unclear why the medical problems associated with this condition are mostly limited to the brain, kidneys, and eyes. It is possible that other enzymes may be able to compensate for the defective OCRL enzyme in unaffected tissues.

Inheritance

Lowe syndrome is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.

  • In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.
  • In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder.
  • Fathers cannot pass X-linked traits to their sons.

In some cases of Lowe syndrome, an affected male inherits the mutation from a mother who carries one altered copy of the OCRL gene. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family.

Females who carry one mutated copy of the OCRL gene do not have the characteristic features of Lowe syndrome. However, most female carriers have changes in the lens of the eye that can be observed with a thorough eye examination. These changes typically do not impair vision.

Other Names for This Condition

  • Cerebrooculorenal syndrome
  • Lowe oculocerebrorenal syndrome
  • Oculocerebrorenal syndrome
  • Oculocerebrorenal syndrome of Lowe
  • Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency

Frequently Asked Questions

Lowe syndrome is inherited in an X-linked recessive pattern. This means that males are almost exclusively affected because they have only one X chromosome. Females are typically carriers and usually do not show symptoms, but they can pass the altered gene to their sons. If a mother is a carrier, each son has a 50% chance of being affected, and each daughter has a 50% chance of being a carrier. Genetic counseling and testing are available for families to understand their risks and explore reproductive options.
Management is multidisciplinary. For the eyes, cataracts are surgically removed early in life, and glaucoma is treated with medication or surgery. Neurological issues like seizures are managed with anti-epileptic drugs, and developmental delays benefit from early intervention therapies (physical, occupational, speech). Kidney problems, specifically renal Fanconi syndrome, are managed by replacing lost nutrients and salts, often with bicarbonate to correct metabolic acidosis, and vitamin D and phosphate supplements to prevent rickets.
Children with Lowe syndrome often benefit from a range of ongoing therapies, including physical therapy to improve muscle strength and motor skills, occupational therapy for daily living activities, and speech therapy for communication development. Special education services are crucial to address intellectual and learning challenges. Regular follow-ups with ophthalmologists, nephrologists, neurologists, and developmental pediatricians are essential to monitor and manage symptoms.
Infants with Lowe syndrome are typically born with congenital cataracts in both eyes, which appear as clouding of the lenses. Other early signs include weak muscle tone (neonatal hypotonia), which can lead to feeding difficulties and delayed motor milestones, and sometimes infantile glaucoma. Kidney problems, such as renal Fanconi syndrome, may develop later in infancy or early childhood, causing increased urination, dehydration, and metabolic acidosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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