Oculocerebrorenal syndrome phenotype in four Iraqi children

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