Conspicuous ocular pathology may accompany disorders of renal tubular reabsorption insufficiency. An increasing number of syndromes attributable to disease of the renal tubules have been identified within the past two decades. Exhibiting widespread and protean systemic anatomical malformations and physiological dysfunction, these syndromes are of particular interest to the pediatrician and ophthalmologist. An important by-product of the recognition of these clinical entities has been a broader comprehension of renal physiology. A genetic causation has been detected in most of the presently known syndromes of renal tubular reabsorption malformation. The responsible mutant gene has been presumed to have effected an absence of, or an abortive, enzymatic activity resulting in certain rather specific malabsorption renal tubular phenomena. In particular syndromes (pseudohypoparathyroidism) defective hormonal response (possibly also enzymatically controlled) has not been entirely ruled out.
It is the purpose of this paper to identify the associated ocular pathology, to present the constellation of
FALLS HF. Ocular Manifestations of the Chronic Renal Tubular Insufficiency Syndromes. AMA Arch Ophthalmol. 1959;62(2):188-195. doi:10.1001/archopht.1959.04220020014002