Abstract: The oculocerebrorenal syndrome (OCRS) is a rare hereditary disorder
characterized by ocular and cerebral defects, hypotonia, hyporeflexia and renal
dysfunction. The aim of this study is to report the phenotype OCRS in four
Iraqi children. From 1994 to 2005, four patients (two boys and two girls) with
OCRS phenotype were observed at Al-Kadhimiyia University Hospital. All
described cases had congenital cataract(s), hypotonia and hyporeflexia and
renal dysfunction. It was possible to study and follow three of them for
several months, while the fourth case was observed only twice and then lost to
follow up. Ocular manifestations in the three cases were in the form of
cataract and glaucoma; one boy had immature cataracts not affecting the vision,
and bilateral congenital chorioretinal hypoplasia. Two boys had nystagmus
during infancy, which was undetectable at time of referral of one case. All the
patients had hypotonia and hyporeflexia, which developed after 3 years in one
girl. Three patients had global developmental delay; however, intelligence and
language was well developed in one girl. All the children had end stage renal
failure with evidence of glomerular defect. None had any renal tubular
dysfunction or Fanconi syndrome. Uremia was the cause of death in the three
cases followed up during their first decade. Congenital chorioretinal
hypoplasia, which had never been described in OCRS, was present in one among
our cases.
Keywords: Oculocerebrorenal, lowe syndrome, Iraqi children
