Lowe Terrey MacLachlan Syndrome (LTMS) is a rare genetic disorder that affects multiple systems in the body. Named after the physicians who first described it, Lowe, Terrey, and MacLachlan, this syndrome primarily impacts males, but there have been a few reported cases in females as well.
LTMS is characterized by three main features: ocular abnormalities, renal (kidney) dysfunction, and cognitive impairment. Individuals with LTMS often have congenital cataracts, which are clouding of the lenses in the eyes that cause visual impairment or blindness. Renal abnormalities include kidney dysfunction, such as proteinuria (excessive protein excretion in urine), renal tubular acidosis (inability of the kidneys to maintain appropriate acid-base balance), and kidney failure. The cognitive impairment in LTMS varies among individuals and can range from mild learning difficulties to profound intellectual disability.
Other symptoms that may be associated with LTMS include growth and developmental delays, hypotonia (reduced muscle tone), movement disorders, skeletal abnormalities, and seizures. These additional features can vary greatly between individuals with LTMS.
LTMS is caused by mutations in the OCRL gene, which is involved in the production of an enzyme called inositol 5-phosphatase. This enzyme plays a crucial role in cellular functions, including the regulation of intracellular trafficking and signaling pathways.
Management of LTMS is primarily supportive and focuses on addressing the specific symptoms and complications faced by each individual. Multidisciplinary care involving ophthalmologists, nephrologists, geneticists, and developmental specialists is necessary to provide comprehensive care for individuals with LTMS.
