Lowe syndrome is an unusual genetic disorder associated with vision impairments, kidney problems, and cognitive disabilities. The condition is named for the lead researcher on the team who discovered and discussed it in the 1950s, and it is also known as oculocerebrorenal syndrome or OCRL. People with this condition can be treated, but it is not possible to cure it, as it involves genetic anomalies that cannot be resolved.
This is an X-linked genetic condition, meaning it is inherited on the X chromosome. Most people with Lowe syndrome are male. Women can carry the disease, but usually don't express it because they inherit a healthy X chromosome from the other parent, and this chromosome overrides the one with the defective gene. If two defective genes are inherited, one from a father with the disease and another from a mother who is a carrier, a woman can develop Lowe syndrome.
At birth, people with Lowe syndrome have cloudy eyes, and they commonly require cataract surgery to address vision problems. Glaucoma, where the pressure in the eye increases, also commonly develops in childhood. Corrective lenses typically need to be worn and vision impairments can grow worse over time. The glaucoma may eventually contribute to the development of vision loss.
Patients with this condition can also experience an issue known as Fanconi syndrome, where the renal tubules in the kidneys are not capable of reabsorbing nutrients. Instead, needed nutrients are expressed in the urine and the patient can develop deficiencies. These may be manageable with supplementation and dietary treatment. Patients can also experience cognitive impairments including seizures and behavioral outbursts. Some people with Lowe syndrome also have decreased intelligence and may have difficulty learning and applying knowledge.
Genetic disorders can be highly variable in their expression, making a full evaluation after diagnosis very important. Having Lowe syndrome does not necessarily mean a patient is incapable of learning, for example, although some assistance may be needed in the classroom. Likewise, although behavioral problems are seen with some cases, they do not always develop, and may vary in severity. Evaluation by doctors and genetic specialists will be used to collect detailed information about the case so the best possible care can be provided.
Some people with Lowe syndrome may live highly independent lives, with some extra medical care to address vision and kidney problems. Others may require aides and assistants to help them complete daily tasks, especially as they age and their physical impairments become more severe.
