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

Aims-To delineate the nature and frequency of ocular pathology in Rubinstei n-Taybi syndrome (RTs). Methods-Literature was searched for reports describing ocular symptoms in p atients with RTs. 24 RTs patients (out of a total of 73 Dutch known RTs ind ividuals) were selected for ophthalmological and electrophysiological exami nation, selection being based only on the distance between a patient's resi dence and the place of investigation. Results-Most frequently reported eye anomalies in the literature were lacri mal duct obstruction, corneal abnormalities, congenital glaucoma, congenita l cataract, and colobomata. Abnormalities of almost any eye segment have be en published in case reports. Ophthalmological examination of 24 Dutch RTs patients showed a visual acuity less than or equal to 0.3 in five patients. The most frequently found eye anomalies were nasolacrimal duct problems (s ix patients), cataract (six patients, four congenital), and retinal abnorma lities (18 patients). VEPs showed an abnormal waveform in 15 patients. It w as possible to perform an ERG in 18 patients, of whom 14 were abnormal (eig ht showed cone dysfunction, six cone-rod dysfunction). Conclusions-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 electrophysiolo gical abnormalities occur more frequently. In four patients no signs of ret inal dysfunction were observed, indicating phenotypic heterogeneity. Furthe r cytogenetic and molecular examination of the patients is needed before it becomes clear if this also represents genetic heterogeneity. Because of th e high frequency of ocular abnormalities, visual function tests and electro physiological investigations should be performed in every RTs patient at re gular intervals.