Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

Ocular abnormalities occur in the majority of RTs patients and can be remarkably diverse. The high frequency of retinal dysfunction (78%) has not been described before. With age, retinal as well as electrophysiological abnormalities occur more frequently. In four patients no signs of retinal dysfunction were observed, indicating phenotypic heterogeneity. Further cytogenetic and molecular examination of the patients is needed before it becomes clear if this also represents genetic heterogeneity. Because of the high frequency of ocular abnormalities, visual function tests and electrophysiological investigations should be performed in every RTs patient at regular intervals.