Thelansis

  Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe (OCRL), is a complex multisystem disorder characterized by abnormalities affecting the eye, nervous system, and kidney. At birth, affected individuals display bilateral cataracts and severe hypotonia. Within the following weeks or months, they develop a proximal renal tubulopathy (Fanconi-type) and may experience complications in the eye, such as glaucoma and the formation of cheloids. During childhood, psychomotor retardation becomes apparent, while behavioral issues become more prominent, and renal complications emerge during adolescence. This condition results from a mutation in the OCRL1 gene, found on the Xq26.1 chromosome, which encodes the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, also known as PtdIns (4,5)P2, located in the trans-Golgi network. Both enzymatic and molecular tests are available for confirming the diagnosis and detecting prenatal disease. It's important to note that sim...