Retinal dystrophy in Jeune's syndrome
D. J. Wilson, R. G. Weleber and R. K. Beals
Jeune's syndrome is an autosomal-recessive 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: progressive
decrease in responses mediated by dark-adapted rods and both dark- and
light-adapted cones in the first patient and progressive increase in b-wave
implicit time elicited by 30-Hz flicker stimulation in the second patient.
