Oculo-Cerebro-Renal Syndrome

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Abstract
THE OCULO-CEREBRO-RENAL syndrome is a congenital hereditary affectation limited to males. It is characterized by growth retardation, mental deficiency, hypotonia, mild or severe metabolic acidosis, generalized hyperaminoaciduria, proteinuria, rickets, and characteristic eye changes, the most prominent of which are bilateral congenital cataracts and glaucoma. Since the original description of this syndrome by Lowe et al1 in 1952 many other reports have appeared. Recently a disturbance in the metabolism of ornithin has been described in a patient affected with this syndrome.2 The term oculocerebro-renal syndrome3 and Lowe's syndrome4 have both been used interchangeably, though the former is preferable. In some published reports a diversity of clinical and metabolic manifestation from the original description has been noted.5 The purpose of the present communication is to compile a comprehensive review of clinical and laboratory findings of the syndrome and to add certain as yet undocumented characteristics of the

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