Fundus changes in the hereditary nephropathies

Three patients are described in whom prominent fundus changes are associated with diffuse hereditary renal diseases: hereditary chronic nephritis, or Alport's syndrome, in 2 patients, and polycystic kidney disease in a third. The fundus changes observed consist primarily of an apparent disturbance in the retinal pigment epithelium, present bilaterally and localized symmetrically in the midperipheries. Macular abnormalities may be associated. These changes appear to represent at least a variant of the flecked retina syndrome, and appear to be a new ocular finding associated with the diffuse hereditary nephropathies. A review of the principal systemic and ocular features of these disorders is presented, and certain theoretic and clinical implications are discussed.