The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder chara
cterized by congenital cataracts, mental retardation, and renal tubular dys
function, The gene responsible for OCRL was identified by positional clonin
g and encodes a lipid phosphatase, phosphatidylinositol 4,5, bisphosphate [
PtdIns(4,5)P2]5-phosphatase, which localizes to the Gels apparatus and is s
uspected to play a role in Golgi vesicular transport [Suchy et al,, 1995],
In addition to the ocular and renal manifestations, most boys with OCRL hav
e cognitive problems and maladaptive behaviors including tantrums and stere
otypies, We report a boy with a history of congenital cataracts and mild de
velopmental delay who was also found to have hematuria with proteinuria but
minimal signs of renal tubular dysfunction, Subsequent renal biopsy was co
mpatible with a diagnosis of a noncomplement fixating chronic glomeruloneph
ritis, Despite the atypical renal findings, skin fibroblast analysis for Pt
dIns (4,5)P2 5-phosphatase was performed, and enzyme activity was low, cons
istent with the diagnosis of OCRL, Western blot analysis from cell lysates
showed the ocrl protein was decreased in size and amount. Our report shows
atypical renal features of OCRL in a mildly affected boy, The possibility o
f OCRL should be considered in boys: with cataracts and glomerular disease,
even in the absence of renal tubular defects and frank mental retardation
usually associated with the syndrome, Published Wiley-Liss, Inc.'.