Lowe (oculocerebrorenal) syndrome is due to hemizygous OCRL mutation and is characterized by both bilateral congenital cataract and glaucoma. Pupils are typically miotic. The lenses are small and thick and may exhibit posterior lenticonus. In carrier mothers, they show radially oriented punctate snowflake opacities. Systemic findings include congenital hypotonia, cognitive impairment, and infantile renal tubulopathy (Fanconi type) with resultant aminoaciduria, metabolic acidosis, proteinuria, and rickets.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.