2020–2021 BCSC Basic and Clinical Science Course™
6 Pediatric Ophthalmology and Strabismus
Part II: Pediatric Ophthalmology
Chapter 28: Ocular Manifestations of Systemic Disease
Familial Oculorenal Syndromes
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.