Oculocerebrorenal Syndrome

In the early 1950s, Lowe and colleagues defined a new syndrome in children that included the classic features of intellectual disability, organic aciduria, decreased renal ammonia production, bilateral cataracts, and glaucoma.

Since then, research has further characterized this disorder by identifying the presence of a Fanconi-type proximal renal tubulopathy, areflexia, and arthropathy.

The oculocerebrorenal syndrome of Lowe syndrome is now known to be an X-linked recessive disorder impacting fundamental intracellular processes, explaining its multi-organ manifestations. Early diagnosis and supportive care are crucial to prevent life-threatening complications and maximize the quality of life.