Oculocerebrorenal syndrome

Disease Overview

Summary 

Oculocerebrorenal syndrome (also known as Lowe syndrome) is a rare genetic condition that mainly affects males. It especially involves the ocular (eyes), cerebral (brain), and renal (kidneys) systems. Symptoms can range widely in type and severity, even among members of the same family. 

Almost all people with oculocerebrorenal syndrome have eye problems beginning at birth. The condition also affects the brain and nervous system (neurological involvement), which can change muscle tone (how tight or floppy muscles are) and slow a child’s physical and developmental progress. In addition, the kidneys do not work normally and have trouble reabsorbing certain substances that the body would usually keep, which can lead to kidney disease. Over time, kidney function gradually worsens, often leading to chronic kidney disease in adolescence or adulthood. Most males with oculocerebrorenal syndrome have a shortened life expectancy, commonly due to kidney failure or complications of the condition. 

Oculocerebrorenal syndrome is caused by changes (pathogenic variants) in the OCRL gene. 

Females who carry one altered copy of the OCRL gene usually do not develop the full syndrome, but many have distinctive changes in the lens of the eye (the clear part that helps focus vision) that can be seen during an eye exam, and in rare cases, may have additional symptoms. 

Treatment is supportive and focuses on managing symptoms.  

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Synonyms

• Oculocerebrorenal syndrome
• Oculocerebrorenal syndrome of Lowe
• Lowe disease
• Lowe oculo-cerebro-renal syndrome
• Lowe syndrome
• OCRL
• Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
• Lowe oculo-cerebro-renal dystrophy
• Lowe oculocerebrorenal dystrophy

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Signs & Symptoms

Oculocerebrorenal syndrome signs and symptoms can vary widely in type and severity, even among members of the same family. Some people may have milder or atypical presentations, especially early in life. For example, cataracts (clouding of the lens of the eye) may be subtle in rare cases and not interfere with vision until adolescence, and kidney or neurological (brain and nervous system) involvement can vary in severity. The signs and symptoms of people with oculocerebrorenal syndrome may include:1- 4 

• Eye problems (usually the first signs of the syndrome), present from birth (congenital): 

• • Congenital cataracts (clouding of the eye lens) are present in nearly all affected boys and may be detected at birth or within the first weeks of life and usually require early surgical removal. 

• • Poor vision, even after successful surgery; Corrected vision is rarely better than 20/100. 

• • Glaucoma develops in about half of affected males, and it is often severe. Glaucoma is a condition caused by increased pressure inside the eye that can damage the optic nerve (responsible for transmitting visual information).  

• • Other possible eye findings, including eye misalignment (strabismus), involuntary eye movements (nystagmus), damage to the eye’s clear front surface (corneal scarring), changes on the retina (the eye’s light sensitive tissue), and corneal keloids (abnormal scar-like growths on the cornea), which can further impair vision or cause blindness 

• Neurological, developmental and behavioral problems (present in all affected people): 

• • Low muscle tone (hypotonia) is present at or shortly after birth, which contributes to:  

• • • Poor head control 

• • • Feeding difficulties (having trouble eating or drinking enough to meet nutritional needs; In infants, this can include trouble latching or sucking, weak swallowing, taking a long time to feed, coughing or choking during feeds, or poor weight gain.) 

• • • Slower-than-expected progress in loving movement and coordination skills (delayed motor development) such as rolling over, sitting up, crawling, standing, walking, or using hands to grasp objects. 

• • • Some individuals learn to walk later than usual, while others require assistive devices or wheelchairs. 

• • Delayed speech and language development 

• • Intellectual disability is present in most affected males but varies widely: 

• • • 10-25% function in the low-normal or borderline range, meaning they may learn more slowly than average but can often develop basic academic and daily living skills. 

• • • Around 25% have mild to moderate intellectual disability, which may involve challenges with learning, communication, and independent living. 

• • • Approximately 50-65% have severe to profound intellectual disability, with significant limitations in learning, communication, and daily activities. 

• • Seizures occur in up to half of affected males, usually beginning in early childhood. 

• • Behavioral differences are common and can vary widely. These may include repetitive movements (such as hand flapping or biting), anxiety, difficulty with being flexible or adapting to changes in routine (stubbornness), temper tantrums, and obsessive behaviors.  

• • • Some individuals may also have attention-related challenges (such as ADHD).  

• • • Autistic features may be present and can include differences in social interaction, communication, sensory sensitivities, and repetitive behaviors.  

• • • Less commonly, aggressive or self-injurious behaviors may occur. 

• • Progressive kidney disease affects all people with this condition and worsens over time. The kidney problems are caused by a condition called Fanconi-type proximal tubular dysfunction, a rare kidney disorder where the proximal tubules (parts of the kidneys that normally reabsorb important substances) do not work properly. As a result, essential substances are lost in the urine instead of being kept in the body. These substances can include glucose (sugar), phosphate, amino acids (building blocks of protein), bicarbonate (which helps control acid levels), and electrolytes. This kidney problem can show up in several ways:  

• • • Protein loss in the urine (proteinuria) occurs from birth, and is often the earliest sign. 

• • • Over time, affected individuals may lose amino acids, bicarbonate, phosphate, glucose, and electrolytes in the urine, leading to: 

• • • • Renal tubular acidosis (too much acid builds up in the blood) 

• • • • Rickets or soft bones, caused by low phosphate levels 

• • • • Excess urination (polyuria) and dehydration 

• • • • Kidney stones or calcium deposits in the kidneys 

• • Chronic kidney disease develops slowly and usually is noted after 10 years of age. 

• • • Progression to kidney failure is usually delayed until adulthood, often in the third or fourth decade of life. 

• Short stature is common (in about 81-90% of the affected people) and usually becomes noticeable in early childhood. 

• Bone problems may occur due to kidney-related mineral imbalances and abnormal vitamin D handling. These can lead to bone pain, fractures, and skeletal deformities. 

• • Scoliosis (curvature of the spine) occurs in about half of affected males. 

• • Some affected individuals experience repeated bone fractures 

• Joint hypermobility (unusually flexible joints) may be present and can lead to joint dislocations. 

• Older children and adults may develop joint swelling, arthritis, tendon inflammation, or benign (non-cancerous) fibrous growths, especially in areas exposed to repeated injury. 

• Elevated muscle enzyme levels on blood testing may be seen, indicating underlying muscle involvement. 

• Feeding and gastrointestinal (GI) problems are common and may include: 

• • Slow weight gain 

• • Gastroesophageal reflux (stomach contents flowing back into the esophagus) 

• • Difficulty swallowing and an increased risk of food or liquid entering the lungs (aspiration), which can lead to pneumonia or chronic lung disease 

• • Weak abdominal muscle tone, which may contribute to chronic constipation and the development of hernias 

Other signs and symptoms may include: 1,2,3 

• Dental abnormalities, including cavities, cysts, loose primary teeth (baby teeth), and abnormally shaped teeth 

• Skin cysts on the scalp, lower back, or buttocks, which can become painful or infected 

• Hidradenitis suppurativa (recurrent deep, painful skin lumps that often scar),  

• Delayed or prolonged bleeding after surgery due to problems with the platelets (the blood cells involved in clotting): 

• • About 20% have mild thrombocytopenia (low number of platelets) 

• • Platelet function tests may be abnormal, even when routine clotting tests appear normal. 

• • Bleeding may not occur immediately after surgery but can recur hours later due to platelet dysfunction. 

• • Doctors should be aware of this risk before any surgery, especially cataract surgery and glaucoma surgery, in which bleeding inside the eye may occur. 

• Increased weight or obesity  

• Undescended testes (cryptorchidism) in about one-third of affected boys 

• Delayed puberty, though sexual development is otherwise normal 

Fertility in affected males is thought to be limited, and no affected males are known to have fathered children (reproduced).2 Most affected men require lifelong assistance and commonly live with family members, although some are able to live in supported group settings or semi-independently.  

Life expectancy is reduced, most often due to progressive kidney disease or complications such as infections, dehydration, or severe bone (skeletal) involvement.1,2 

Features in Female Carriers 

Most females who carry a change in the OCRL gene do not develop all the signs and symptoms, but about 95% of adult female carriers have distinctive changes in the lenses of their eyes. These changes can be seen during a detailed eye exam performed by an experienced eye doctor using special equipment after the pupil is dilated. Finding these lens changes strongly supports carrier status, although their absence – especially in children – does not rule it out.1 

The lens changes usually appear as small, pale spots arranged in a spoke-like pattern around the edge of the lens. These findings typically do not affect vision. In a few carrier females (about 10%), a denser cataract may form in the center of the lens. In some women, cataracts may become noticeable later in adulthood and occasionally require surgery. 1 

Aside from these eye findings, female carriers usually do not have other features of oculocerebrorenal syndrome. Very rarely, a female may develop the full condition due to unusual genetic circumstances that cause the altered gene to be active in most or all cells.1 

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Causes

Oculocerebrorenal syndrome is caused by a disease-causing change (pathogenic variant) in the OCRL gene (located in the long arm (q) of the X chromosome, specifically in a region known as Xq26.1).  

The OCRL gene provides instructions for making the OCRL-1 enzyme (phosphatidylinositol polyphosphate 5-phosphatase OCRL), a type of protein that helps cells manage, move, and recycle important substances inside the cell. When this enzyme is missing or does not work properly, certain chemical signals build up inside cells. This buildup interferes with normal cell development and function, leading to the features of oculocerebrorenal syndrome.1,2 

The OCRL gene that makes the OCRL-1 protein is active in many tissues throughout the body. This widespread activity helps explain why oculocerebrorenal syndrome affects multiple organ systems.  

• Kidneys: When OCRL-1 does not function properly, kidney cells cannot reabsorb proteins and other substances as they should, leading to the kidney problems seen in oculocerebrorenal syndrome.  

• Eyes: Disrupted cell function contributes to the development of cataracts and other visual problems.  

• Brain and muscles: Changes in brain and muscle cells contribute to low muscle tone, developmental delays, and learning difficulties.  

The exact mechanism that leads to these three organ systems being primarily affected is not yet known.1, 4 

Different disease-causing changes in the OCRL gene can lead to a wide range of symptoms. Some individuals develop classic oculocerebrorenal syndrome, while others have to milder forms, sometimes affecting mainly the kidneys. Even people with similar genetic changes may have different levels of severity.  

The OCRL gene has been found to be highly expressed (active) in the hypothalamus, pituitary gland, and other endocrine tissues, which are areas of the brain involved in regulating growth. It is suspected that reduced or absent OCRL expression (activity) in these areas contributes to the short stature seen in oculocerebrorenal syndrome. Future treatments, such as growth hormone therapy, may help address this feature, though more research is needed.4 

Oculocerebrorenal syndrome is inherited in an X-linked pattern. About one-third of affected males have a new (de novo) variant in the OCRL gene that was not inherited from either parent. In most of the rest, the disorder is inherited from a mother who is a genetic carrier of the altered gene.2 

X-linked genetic conditions are caused by changes in genes located on the X chromosome. Because males have one X chromosome and females have two, X-linked conditions usually affect males more severely.  

A male inherits his single X chromosome from his mother. If that X chromosome carries a disease-causing change (gene with a pathogenic variant) in the OCRL gene, he will develop the condition.  

Females who carry one altered copy of the gene are typically called carriers. In each cell, one X chromosome is naturally turned off (a process called X-chromosome inactivation), meaning only one copy of the gene is active. 

Although in many X-linked disorders, carrier females usually do not have symptoms because the activity of the normal gene is sufficient to prevent abnormalities. However, in oculocerebrorenal syndrome, many carrier females develop distinctive changes in changes in the lenses of their eyes, even though they usually do not have the full condition affecting different organ systems. 1, 5, 6 

For a female carrier, each pregnancy carries a 25% chance of having a daughter who is also a carrier, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son. Each pregnancy, of course, is independent of the last and does not influence the outcome of the next pregnancy. 

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Affected populations

Oculocerebrorenal syndrome is a rare genetic condition that affects people of all ethnic backgrounds. It is estimated to occur in about 1 in 500,000 people in the general population, based on data from the American and Italian oculocerebrorenal syndrome associations. Cases have been reported in many regions, including North America, Europe, Australia, Japan, and India, and the condition is believed to occur worldwide.7  

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Disorders with Similar Symptoms

Several conditions can resemble oculocerebrorenal syndrome because they share some of its key features, particularly congenital cataracts (clouding of the eye lens), low muscle tone, developmental delay, and kidney tubular dysfunction. Distinguishing oculocerebrorenal syndrome from these disorders requires careful assessment of clinical findings, laboratory studies, eye examinations, and genetic testing. 

A key feature of oculocerebrorenal syndrome is a specific type of kidney problem known as proximal renal tubular dysfunction. This means the kidneys cannot properly reabsorb certain substances, leading to the loss of small proteins in the urine. This finding, known as low–molecular-weight proteinuria, is common in oculocerebrorenal syndrome and helps distinguish it from other conditions.  

Low-molecular-weight proteinuria can also be seen in other causes of Fanconi syndrome, including: 1, 2, 8-10 

• Cystinosis, a condition that causes Fanconi syndrome and poor growth beginning in infancy. In oculocerebrorenal syndrome, protein loss in the urine (low–molecular-weight proteinuria) is usually more pronounced, persistent, and present from very early life. Unlike oculocerebrorenal syndrome, cystinosis does not cause congenital cataracts or low muscle tone (hypotonia) and is characterized by the presence of cystine crystals in the cornea, which can be seen on eye examination. 

• Medication-related kidney injury (such as damage from certain antibiotics) 

• Kidney transplant rejection that damages the kidney tubules.  

• Dent disease type 2, which is also caused by changes in the OCRL gene but primarily affects the kidneys and typically lacks the eye and brain and nervous system (neurological) features seen in oculocerebrorenal syndrome. This distinction is important when kidney findings are prominent but cataracts or significant developmental delays are not present. 

Other conditions that have similar features to oculocerebrorenal syndrome and may need to be ruled out include: 1, 2, 8-10 

• Certain congenital infections, especially rubella, can cause cataracts at birth, low muscle tone (hypotonia), developmental delay, and kidney abnormalities. These conditions are usually distinguished by a history of infection during pregnancy (maternal infection history), additional body-wide (systemic) findings, and laboratory testing. 

• Zellweger spectrum disorders (including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease) may involve low muscle tone (hypotonia), developmental delay, eye abnormalities (including cataracts), and kidney abnormalities. These conditions are often distinguished by severe brain and nervous system (neurologic) involvement beginning in the newborn period, distinctive facial features, liver disease, hearing loss, and bone (skeletal) abnormalities. 

• Nance-Horan syndrome causes congenital (at birth) cataracts, intellectual disability, and dental abnormalities but does not involve kidney disease. It also has distinctive facial and eye features that differ from oculocerebrorenal syndrome and female carriers show distinctive lens changes. 

• Smith–Lemli–Opitz syndrome can include cataracts, low muscle tone (hypotonia), kidney abnormalities, and intellectual disability, but it is typically associated with growth restriction, multiple birth defects, distinctive facial features, genital abnormalities in males, and limb differences that are not seen in oculocerebrorenal syndrome. 

• Congenital myotonic dystrophy type 1 may present with severe low muscle tone (hypotonia), muscle weakness, and developmental delay. Cataracts can develop later in life, but significant kidney disease is not a feature, which helps distinguish it from oculocerebrorenal syndrome. 

• Mitochondrial disorders may also cause low muscle tone (hypotonia), seizures, developmental delay, and kidney tubular dysfunction, sometimes including Fanconi syndrome. These disorders often have fluctuating neurologic symptoms and additional features such as muscle weakness with exercise intolerance, heart disease, hearing loss, eye movement abnormalities, or diabetes. Congenital (at birth) cataracts are uncommon in most mitochondrial disorders. 

• Donnai–Barrow syndrome may involve loss of small proteins in the urine (low–molecular-weight proteinuria), kidney stones, and reduced kidney function, but congenital (at birth) cataracts and significant low muscle tone (hypotonia) are not typical. Affected individuals often have severe nearsightedness, hearing loss, and distinctive facial features. 

Other conditions that may be part of the differential diagnosis include muscle-eye-brain disease, Wilson disease, and mucopolysaccharidoses, depending on the specific combination of neurologic, eye, kidney, and systemic findings.10 

Overall, oculocerebrorenal syndrome is distinguished by the combination of congenital cataracts, early-onset hypotonia with developmental delay, and characteristic kidney tubular dysfunction, supported by genetic or enzyme testing. 

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Diagnosis

Oculocerebrorenal syndrome is usually diagnosed in males through a combination of genetic testing and characteristic signs and symptoms. In affected males, genetic testing typically identifies pathogenic changes in the OCRL gene. These genetic findings are interpreted together with typical clinical symptoms and laboratory results.2 

In the rare cases where females are affected, diagnosis requires identification of a single pathogenic variant in the OCRL gene along with the same characteristic clinical features seen in affected males. 

Oculocerebrorenal syndrome should be considered in males who present with the following classic combination of findings: 2 

• Dense cataracts in both eyes present at birth, causing early visual impairment 

• Low muscle tone (hypotonia) beginning in infancy, along with delayed motor and developmental milestones 

• Kidney tubular dysfunction of the Fanconi type, meaning the kidneys are unable to properly reabsorb certain substances 

This kidney dysfunction leads to abnormal loss of substances in the urine, including: 2 

• Low-molecular-weight (LMW) proteins 

• Amino acids 

• Bicarbonate, phosphate, and calcium, in varying amounts 

The loss of small proteins in the urine (low-molecular-weight proteinuria) – especially proteins such as retinol-binding protein and N-acetylglucosaminidase – is often the earliest and most sensitive sign of kidney involvement in oculocerebrorenal syndrome. This finding may appear very early in life, even before other kidney abnormalities become obvious. 2 

If genetic testing in a male with typical features of oculocerebrorenal syndrome does not identify a clearly disease-causing variant, or finds a change of uncertain significance, enzyme testing can be performed. This test measures the activity of the OCRL-1 enzyme in skin cells grown in the laboratory. Affected males have less than 10% of normal enzyme activity, and this test is abnormal in more than 99% of confirmed cases. 2 

In females diagnosed with oculocerebrorenal syndrome, additional testing is recommended to determine why the condition is expressed. This may include: 2 

• Identifying disease-causing changes (pathogenic variants) on both X chromosomes 

• Detecting rare X-chromosome rearrangements  

• Demonstrating highly skewed X-inactivation, a process in which the X chromosome carrying the normal OCRL gene is inactive in most cells 

Prenatal diagnosis is available with biochemical testing (enzyme assay) or molecular genetic testing if the OCRL gene variant has been determined in an affected male relative or carrier mother.2 Prenatal ultrasound findings that may suggest oculocerebrorenal syndrome include bilateral (on both sides, meaning in both eyes) cataracts (the most common finding), though isolated unilateral (on one side, meaning in one eye) cataract has also been reported.11 

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Standard Therapies

Treatment 

Treatment of oculocerebrorenal (Lowe) syndrome is primarily supportive and requires coordinated, multidisciplinary care, as the disorder affects multiple organ systems and can significantly influence long-term health and survival. The overall goal of treatment is to optimize organ function, prevent acute complications, and improve quality of life, since no curative therapy is currently available in routine clinical practice.1,2  

Management of nervous system and musculoskeletal involvement begins early in life. Low muscle tone (hypotonia) is addressed through prompt initiation of physical therapy and structured rehabilitation programs to support motor development and reduce long-term disability. Ongoing physical therapy helps maintain joint mobility and lowers the risk of contractures. 

Bone disease, including osteomalacia, is treated with vitamin D (calcitriol) and phosphate supplementation to correct underlying metabolic abnormalities. In children with significant feeding difficulties due to hypotonia or swallowing impairment, providing liquid nutrition directly into the stomach through the nose or a small opening in the belly (enteral nutrition via nasogastric or gastrostomy tube) may be necessary to ensure adequate growth and nutrition.1,2 

Brain and nervous system (neurologic) complications such as seizures are managed on an individual basis using appropriate anticonvulsant medications.  

Behavioral, cognitive, and psychiatric manifestations are common and are best addressed through an interprofessional approach that combines medical care with psychological, educational, and therapeutic support. This may include special education services, occupational therapy, and speech and language therapy to promote communication and daily functioning. Pharmacologic treatments, such as antipsychotic or antidepressant medications, may be used when needed and should be tailored to each patient.  

In selected cases, recombinant human growth hormone (a lab-made version of natural growth hormone normally produced by the body) has been reported to improve growth and weight gain and may serve as an adjunct to standard supportive care and only if indicated and supervised by a doctor with experience. 

Management of eye problems (ocular management) is a critical component of treatment. Congenital (at birth) cataracts require early surgical removal, ideally in infancy, to prevent amblyopia (a condition where the brain favors one eye over the other, causing the weaker eye to have reduced vision, often called “lazy eye”) and maximize visual development.  

Because of the small size of the eyes, affected infants are typically left without an implanted lens and require aphakic refractive correction (using special glasses or contact lenses).  

Lifelong eye care by an eye specialist called an ophthalmologist is necessary to monitor visual development, refractive changes, and complications such as glaucoma, which is often resistant to medical therapy and frequently requires surgical intervention. 

Common eye surgeries that may be needed include procedures to help lower pressure inside the eye, such as trabeculectomy, goniotomy, or placement (implantation) of a drainage tube (aqueous tube shunt). These surgeries help fluid drain properly from the eye to protect vision.  

Some individuals may also need treatment for eye misalignment (strabismus) or problems affecting the cornea (corneal abnormalities), the clear front surface of the eye. Corneal problems can include thickened scar-like growths (corneal keloids), scarring, or, in severe cases, corneal transplantation, which replaces the damaged cornea with healthy donor tissue.1 

Kidney (renal) care focuses on correcting chemical (metabolic) abnormalities and slowing progression of kidney disease.  

One common treatment is alkali therapy, most often using sodium bicarbonate, which helps neutralize excess acid in the blood (chronic acidemia) when the kidneys cannot do this on their own.  

Doctors regularly monitor blood calcium levels and parathyroid hormone levels to make sure vitamin D supplementation is not too high. Too much vitamin D can increase calcium in the urine (hypercalciuria), which raises the risk of kidney stones.12  

As kidney function gradually declines, some people progress to end-stage renal (kidney) disease, at which point dialysis (a treatment that removes waste and excess fluid from the blood) becomes necessary. In a limited number of cases, kidney transplantation has been used as a treatment option.1 

Management involves regular dental checkups once the teeth have come in. Ongoing dental monitoring is important to catch any problems early. Preventive care focuses on reducing the risk of tooth decay and includes daily use of fluoride toothpaste, professional fluoride treatments at the dental office, good oral hygiene habits, and advice on a tooth-friendly diet. If certain conditions are found, such as jaw cysts, treatment depends on their size. Larger cysts may be treated by slowly reducing their size, while smaller ones may be removed with minor surgery. Tooth looseness should also be watched closely, as it can range from mild looseness of several teeth to baby teeth staying in place longer than expected.12 

While current treatment strategies focus on symptom control and supportive care, advances in gene therapy are opening new possibilities for addressing the root cause of oculocerebrorenal syndrome. Experimental approaches using precise gene-editing technologies aim to correct disease-causing changes (pathogenic variants) in the OCRL gene, potentially restoring normal protein function and preventing downstream cellular damage. Although still under investigation and not yet available for clinical use, gene therapy represents a promising future direction toward disease-modifying or curative treatment. 13 

The project Lowe Syndrome and Me brought together researchers and caregivers to create videos sharing patient, family, and researcher perspectives. The initiative improved communication, understanding of research, and community engagement, while strengthening advocacy, despite challenges such as geographic distance and limited participant diversity. 

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ . All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site. 

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: 

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected] 

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/ 

For information about clinical trials sponsored by private sources, contact:
https://www.centerwatch.com/ 

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/ 

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References

1. Tripathi M, Markan A, Tripathy K, et al. Oculocerebrorenal Syndrome. [Updated 2025 Dec 1]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK585123/  
2. Brewer ED. Clinical variation in Lowe syndrome: what and how?. Front Cell Dev Biol. 2025;13:1720452. Published 2025 Nov 6. doi:10.3389/fcell.2025.1720452  
3. Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. 2001 Jul 24 [Updated 2019 Apr 18]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1480/  
4. Sena C, Iannello G, Skowronski AA, et al. Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. J Med Genet. 2022;59(12):1171-1178. doi:10.1136/jmedgenet-2022-108490 
5. Bokenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol 2016: [Epub ahead of print] 25 March 2016 
6. Roschinger W, Muntau AC, Rudolph G, et al. Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000;69:213-22. 
7. Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol. 2016;31(12):2201-2212. doi:10.1007/s00467-016-3343-3  
8. Hichri H, Rendu J, Monnier N, et al. From Lowe syndrome to Dent Disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat. 2011;32:379-388. 
9. Schurman SJ, Scheinman SJ Inherited cerebrorenal syndromes.. Nat Rev Nephrol. 2009;5(9):529-38. 
10.  Alcorn DM. Lowe Syndrome (Oculocerebrorenal Syndrome) Differential Diagnoses. Medscape Reference. Jul 11, 2023. Available at:  https://emedicine.medscape.com/article/1214184-differential Accessed on 1/8/2026.  
11. Rouxel F, Fauré J, Faure JM, et al. Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract. Heliyon. 2022;8(12):e12210. Published 2022 Dec 10. doi:10.1016/j.heliyon.2022.e12210 
12. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006;1:16. Published 2006 May 18. doi:10.1186/1750-1172-1-16 
13. Lowenstein, A., Swee, G., Finkelman, M. D., Tesini, D., & Loo, C. Y. (2023). Dental needs and conditions of individuals with Lowe syndrome: An observational study. Special Care in Dentistry. https://doi.org/10.1111/scd.12870 
14. Chen S, Lo CH, Liu Z, et al. Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts. Hum Mol Genet. 2024;33(13):1142-1151. doi:10.1093/hmg/ddae045 

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Programs & Resources

• Assistance Programs
• Patient Organizations
• More Information

RareCare^® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Learn more about Patient Assistance Programs >

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