The symptoms of PRTAO include severe hyperchloremic acidosis, keratopathy, low renal threshold for bicarbonate reabsorption, nystagmus, cataract, glaucoma, growth, and intellectual disability. Diagnosis can be made on the basis of the presence of symptoms as well as biochemical indicators. These symptoms and complications are treated symptomatically when possible.

PRTAO is caused by mutations in the SLC4A4 (NBC1) gene. Studies indicate that at least 50% reduction of SLC4A4 activity is required to cause severe proximal renal tubular acidosis. The protein encoded by SLC4A4 plays an essential role in bicarbonate absorption from renal proximal tubules, and the gene is widely expressed in several ocular tissues. The latter notion may explain the accompanying ocular abnormalities.