Retinal Dystrophy in Jeune's Syndrome

Jeune's syndrome is an autosomalrecessive condition characterized by multiple organ abnormalities, the most severe of which affect the skeleton, kidneys, and eyes. Severe respiratory insufficiency frequently results in death in infancy, but several patients have been reported to survive to adulthood. For this reason the prognosis for patients with ocular abnormalities is of interest in counseling families. We report a sibship of two patients who showed evidence for progression by visual field and electroretinogram testing when followed up over 3.7 years. Progressive electroretinographic abnormalities consisted of the following: (1) progressive decrease in responses mediated by dark-adapted rods and both dark- and light-adapted cones in the first patient and (2) progressive increase in b-wave implicit time elicited by 30-Hz flicker stimulation in the second patient.