First described in 1952, Lowe syndrome is an X-linked recessive (chromosome location Xq26.1) disorder, of unknown etiology resulting in an ocular, cerebral, and renal syndrome. The incidence of Lowe syndrome is rare (about 50 cases worldwide), and males are at more risk than females.
Lowe’s syndrome is an infrequent genetic disorder that follows an X-linked pattern, impacting the eyes, kidneys, and brain. This syndrome is characterized by a metabolic malfunction where a specific enzyme located in cell membranes fails to operate. Solely males are susceptible to this condition.
Various eye conditions can arise, including glaucoma, cataracts, and nystagmus characterized by abnormal and jerky eye movements. Kidney dysfunction can lead to chemical imbalances like acidosis, as well as a type of rickets that doesn’t respond to vitamin D treatment. Additionally, there are brain disorders linked to this, encompassing learning challenges, behavioral issues, and occasional seizures.