What is Lowe Syndrome

Lowe Syndrome, also known as Oculocerebrorenal Syndrome, is a rare genetic disorder that primarily affects males. It is characterized by a triad of symptoms involving the eyes, brain, and kidneys.

Eye abnormalities are a prominent feature of Lowe Syndrome. Individuals may experience congenital cataracts, which are clouding of the lenses in the eyes, leading to vision impairment or blindness. Other eye problems such as glaucoma and strabismus (crossed or misaligned eyes) can also occur.

The brain is affected in Lowe Syndrome, leading to intellectual disability and developmental delays. Individuals may have delayed motor skills, speech difficulties, and learning disabilities.

Kidney problems are another hallmark of Lowe Syndrome. The condition can cause a variety of kidney abnormalities, including a loss of proteins in the urine (proteinuria), kidney cysts, and progressive renal failure.

Lowe Syndrome is caused by mutations in the OCRL gene, which is involved in cellular processes and transport within the body. It is inherited in an X-linked recessive pattern, meaning the gene mutation is located on the X chromosome.

Early diagnosis and management of Lowe Syndrome are crucial. Treatment focuses on addressing the specific symptoms and may include cataract removal, physical therapy, and supportive care for kidney function.