Unilateral pigmentary degeneration of the retina associated with heterochromia iridis

Background: For the past 5 years, a 56-year-old patient has been displaying monocular progressive pigmentary changes in the left eye. Heterochromy of the left eye has been known since childhood. The other eye is clinically an d functionally normal. The patient was adopted and he has no children. Ther efore, we have no family history. Methods: The patient was examined clinica lly and by means of electroretinography, electrooculography, perimetry, com puter tomography, pulsatile ocular blood flow (POBF) measurement, serology and Doppler sonography. Results: Electrophysiology displayed a considerable reduction of scotopic and photopic ERGs, a reduced dark-through, and a red uced light-rise in the left eye, whereas the fellow eye was normal. The vis ual field was limited to 5 deg around the fixation point, and a peripheral crescent-shaped arch encircled the temporal-inferior quadrant concomitant t o the pigmentary changes. By computer tomography and Doppler sonography a v ascular affection was excluded. The left eye displayed lower POBF values. A ll serological rests were found negative. Conclusion: The clinical picture and negative exclusion criteria indicate a unilateral retinitis pigmentosa. However, with regard to the literature an unequivocal diagnosis can only b e made upon hereditary evidence.