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

Abstract

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 </=0.3 in five patients. The most frequently found eye anomalies were nasolacrimal duct problems (six patients), cataract (six patients, four congenital), and retinal abnormalities (18 patients). VEPs showed an abnormal waveform in 15 patients. It was possible to perform an ERG in 18 patients, of whom 14 were abnormal (eight 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 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.

Figure 1

(A) Characteristic facial Rubinstein-Taybi syndrome in a 13 year old female patient. (B) Downward slanted palpebral fissures, long eyelashes, beaked nose, pouting lower lip, and mildly dysplastic and posteriorly rotated ears. (C) Typical hand characteristics in the same patient with Rubinstein-Taybi syndrome. (D) Typical foot characteristics in the same patient.

Figure 2

Seven year old male patient with Rubinstein-Taybi syndrome, showing mild macular abnormalities: unusual distribution of pigment, red foveal area.

Figure 3

Fundus of 34 year old patient with Rubinstein-Taybi syndrome with retinal pigment epithelial changes.

Figure 4

Right fundus of 37 year old female patient with Rubinstein-Taybi syndrome showing a pale and excavated optic disc and a small chorioretinal coloboma.

Figure 5

Pattern onset visual evoked potentials of a normal subject (left), patient with RTs (middle), and patient with achromatopsia (right).