Lowe oculocerebrorenal syndrome

Disease Overview

Lowe oculocerebrorenal syndrome is a rare condition that primarily affects the eyes, central nervous system and kidneys. Some of the signs and symptoms associated with the condition are often present from birth, including congenital cataracts and other eye abnormalities; hypotonia (reduced muscle tone); and feeding difficulties. Affected people may also experience kidney problems (such as Fanconi syndrome), infantile glaucoma, impaired vision, developmental delay, intellectual disability, behavioral problems, seizures and short stature.[10909][10910][10911] Lowe oculocerebrorenal syndrome occurs almost exclusively in males. The condition is caused by changes (mutations) in the OCRL and is inherited in an X-linked recessive manner.[10909][10910] Treatment is based on the signs and symptoms present in each person.[10910][10911]

Synonyms

• OCRL
• OCRL1
• Lowe syndrome
• Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
• Oculocerebrorenal syndrome