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Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria.
Lowe syndrome is a rare genetic condition that causes physical and mental handicaps and medical problems. Learn about the causes, symptoms, treatment, and research of this condition that affects mostly males and is also known as OCRL syndrome.
Sep 19, 2016 · Lowe syndrome causes vision problems, kidney failure, intellectual disability, and other complications in males. It is caused by a mutation in the OCRL gene and affects 1-10 males per million.
Lowe syndrome is a condition that affects the eyes, brain, and kidneys, and occurs almost exclusively in males. It causes cataracts, glaucoma, delayed development, intellectual disability, and kidney problems that can lead to renal failure.
Jul 24, 2001 · Lowe syndrome is an uncommon, pan ethnic disorder with an estimated prevalence of 1:500,000 in the general population, based on observations of the American Lowe Syndrome Association and the Italian Association of Lowe syndrome [Bökenkamp & Ludwig 2016].
Jul 11, 2023 · Lowe syndrome, also called oculocerebrorenal syndrome (OCRS) and oculocerebrorenal syndrome of Lowe (OCRL), is an X-linked recessive metabolic disorder described by Lowe and coworkers...
Jul 25, 2023 · The oculocerebrorenal syndrome, also known as Lowe syndrome, was first described by Lowe et al. in 1952. It is a rare, X-linked recessive multisystem disorder that classically presents with a triad of congenital cataracts, renal failure, and intellectual delay.
