Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.

ABSTRACT:

Background

Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patients. Although loss of vision is a major concern for families and physicians who take care of Lowe syndrome children, definitive cause of visual loss is still unclear. Children usually present with bilateral dense cataracts at birth and glaucoma, which occurs in more than half of cases, either concurrently or following cataract surgery.

Materials and methods

A retrospective review was conducted on the prevalence and characteristics of ocular findings among families of patients with Lowe syndrome with 137 uniquely affected

SUBMITTER: Ma X 

PROVIDER: S-EPMC8177091 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature