NBCe1 is expressed in various extrarenal organs and accordingly patients with autosomal recessive pRTA due to NBCe1 mutations can be diagnosed clinically (without the need for genetic testing) because of the specific systemic phenotypic abnormalities that include, growth and mental retardation, glaucoma, cataracts, corneal opacities (band keratopathy), basal ganglia calcification, elevated serum lipase and amylase, and enamel defects (Tables 1 and 2; Igarashi et al., 1999; Kurtz, 2013). Here, SLC4A4 is linked to glaucoma.