Lowe syndrome (oculocerebrorenal syndrome of Lowe) is a rare X-linked disorder involving the eyes, central nervous system, and kidneys, with an estimated prevalence of about 1 in 500,000. It is caused by mutations in the OCRL gene.
Most clinicians encounter it only once. The Lowe Syndrome Association aims to connect medical professionals with the specialists and researchers who know this condition best.
Publications
GeneReviews
Authors: Richard Alan Lewis, MD, MS, Robert L Nussbaum, MD, and Eileen D Brewer, MD.
Last Updated: April 18, 2019
A very detailed medical description of Lowe syndrome can be found on GeneReviews. This article is suggested for medical professionals and researchers who need to learn more about Lowe syndrome, including the technical details of diagnosis and the genetics involved with Lowe syndrome.
Living with Lowe Syndrome Guide
Authors: Lowe Syndrome Association, Inc.
Published: 2010
Based on a comprehensive survey in which 137 Lowe syndrome families participated, this book provides medical and developmental information about Lowe syndrome. Many families have relied on this book as an ‘operating manual’ for individuals with Lowe syndrome.
Clinical Features of Lowe Syndrome
Authors: Eileen D Brewer, MD
Published: November 6, 2025
Dr. Eileen Brewer’s new mini-review examines why Lowe syndrome symptoms vary so widely from boy to boy — and what current research suggests about the genetics behind that variation.
Clinical Resources
- Genetic Testing — diagnostic methods, prenatal diagnosis, testing-lab directory
- Carrier Detection — slit-lamp exam guidance and the Baylor slide set for ophthalmologists
- Routine Tests & Monitoring — ongoing blood, urine, and imaging schedule
Researchers and clinicians can also learn how families contribute to research through Citizen Health and explore global Lowe syndrome research.