The oculo-cerebral-renal syndrome was first described by Lowe et al1 in 1952. Since that time there have been 23 published cases. The syndrome is characterized by involvement of the central nervous system, the eye, and the kidneys. In addition, our series shows bilateral cryptorchidism in seven of eight patients. Serious congenital metabolic defects add further complications. Neurological examination of these patients reveals marked mental retardation and hypotonia. Renal defects are manifested by proteinuria, acidosis, and hyperamino aciduria. The metabolic abnormalities are associated with osteoporosis. The disabilities are so severe that probably no patient will reach maturity (Fig 1).
Eight cases2 are now reviewed to emphasize the ophthalmological findings. The results of the ocular examinations of the patients, parents, and siblings will be considered to evaluate the genetics of the disease.
All of these patients had serious eye disease. Each had bilateral congenital cataracts, five had congenital glaucoma (one
WILSON WA, RICHARDS W, DONNELL GN. Oculo-Cerebral-Renal Syndrome of LoweA Review of Eight Cases Noting the Genetic Inheritance. Arch Ophthalmol. 1963;70(1):5-11. doi:10.1001/archopht.1963.00960050007003