The symptoms of proximal RTA with ocular abnormalities and mental retardation include severe hyperchloremic acidosis, keratopathy, low renal threshold for bicarbonate reabsorption, nystagmus, cataract, glaucoma, growth, and mental retardation.
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.