Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. The disease is autosomal recessive proximal renal tubular acidosis (Monarch Disease Ontology entry MONDO_0011422). Also known as: AR pRTA, proximal renal tubular acidosis with ocular abnormalities and intellectual disability, proximal renal tubular acidosis, autosomal recessive, renal tubular acidosis, proximal, with ocular abnormalities.