Is Lowe Syndrome Rare?

Lowe syndrome is an uncommon condition. It has an estimated prevalence of 1 in 500,000 people.

What is a symptom of Lowe disease?

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities.

Are there any treatments for Lowe Syndrome?

The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water.

Who discovered Lowe Syndrome?

It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012) and colleagues at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.

What is lamellar cataract?

Lamellar or zonular cataract is a hereditary cataract that is transmitted in an autosomal dominant mode. The crystalline opacities are located at the level of the primary fibers in the embryonic nucleus. This cataract is usually bilateral and asymmetrical.

What is a snowflake cataract?

Cataract/Anterior Segment. Diabetic cataract, or “snowflake” cataract, consists of gray-white subcapsular opacities. This type of cataract is seen, in rare cases, in patients with uncontrolled diabetes mellitus.

What is the difference between progeria and Werner syndrome?

These are actually two distinctly different disorders; a major clinical difference is that the onset of the Hutchinson-Gilford syndrome (sometimes called progeria of childhood) occurs within the first decade of life, whereas the first evidence of Werner syndrome (sometimes called progeria of the adult) appears in …

What disease makes you look younger?

What Is Progeria? Progeria is also known as Hutchinson-Gilford progeria syndrome (HGPS) or the “Benjamin Button” disease (named after the short story and movie ‘The Curious Case of Benjamin Button’). It’s a rare genetic condition that results in a child’s body aging rapidly. A mutation in the LMNA gene causes progeria.

What is Lowe syndrome in babies?

Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts ), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes.

What is lowlowe syndrome?

Lowe syndrome also known as oculocerebrorenal syndrome, is a condition that primarily affects the eyes, brain, and kidneys 1). Lowe syndrome occurs almost exclusively in males.

What is Lowe syndrome of the eye?

Lowe Syndrome 1 Disease Entity. Lowe syndrome or oculocerebrorenal syndrome of Lowe (OCRL) is a rare disorder characterized by multiple features occurring mainly in males. 2 Diagnosis. The definite diagnosis of Lowe Syndrome is based on genetic testing and physical exam findings upon birth. 3 Management.

What are the long-term complications of Lowe syndrome?

Boys with Lowe syndrome should be monitored regularly for vision problems (especially later onset glaucoma), kidney function, growth, developmental progress, scoliosis, and joint problems, and dental problems. End-stage renal disease has been treated successfully with dialysis and kidney transplantation in some late-adolescent adult men.

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