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

AIMS: To delineate the nature and frequency of ocular pathology in Rubinstein-Taybi syndrome (RTs). METHODS: Literature was searched for reports describing ocular symptoms in patients with RTs. 24 RTs patients (out of a total of 73 Dutch known RTs individuals) were selected for ophthalmological and electrophysiological examination, selection being based only on the distance between a patient's residence and the place of investigation. RESULTS: Most frequently reported eye anomalies in the literature were lacrimal duct obstruction, corneal abnormalities, congenital glaucoma, congenital cataract, and colobomata. Abnormalities of almost any eye segment have been published in case reports. Ophthalmological examination of 24 Dutch RTs patients showed a visual acuity

The Visual Advice Centre, Eindhoven, The Netherlands. An intervenient evaluation.

On referral by ophthalmologists, the Visual Advice Centre provides the partially sighted with advice and prescriptions for illumination and visual aids. In this paper the multidisciplinary structure of the centre is presented and the results obtained in the first 18 months of its existence are discussed. Two hundred and ninety-eight patients were referred to the centre in this period. The majority of these patients (79.2%) were older than 60 years. The main cause of visual impairment was macular disease (45.3% of the patients). An interesting finding is that, although reading is an important need, reading problems only constituted 35.9% of the total number of demands for help. From an inquiry into the situation of 125 patients 6 months after prescription, it appears that more than 90% of the aids prescribed are used regularly. The conclusion is drawn that patients referred to the Visual Advice Centre benefit from the multi-disciplinary approach to their problems.