Lowe syndrome in a 20-year-old male: the clinical course and genetic analysis in OCRL1

Abstract

 Lowe syndrome (oculocerebrorenal syndrome of Lowe, OCRL) is characterized by congenital cataracts and glaucoma, mental retardation, hypotonia with diminished to absent reflexes, and Fanconi syndrome of the proximal renal tubules. It is inherited in an X-linked recessive manner. The disorder arises from mutations in OCRL1. We have carried out analysis of OCRL1 gene in his family and made his family tree. The patient has low height, mental retardation and mild renal dysfunction at age 20. He currently works in a sheltered workshop and lives at home.
 In this report, we describe the clinical features and course of a 20-year-old male with Lowe syndrome.