Ocular features in rubinstein-taybi syndrome

ABSTRACT

Rubinstein-Taybi syndrome [RSTS] is a congenital disorder characterized by growth and mental retardation, facial dysmorphism and broad thumbs and toes. Ocular anomalies are evident in most of RSTS patients and they are phenotypic heterogenous. The study aimed to delineate the nature and the frequency of the ocular findings in RSTS and to demonstrate the clinical variability of this syndrome. Fifteen patients with phenotypic features of RSTS were included in the study. The sex ratio was M F=9 6 and the mean age of the cases was 4.5 ys. Negative family history was reported and all the parents were normal. Ocular abnormalities were present in all the cases, where the most common features were slanted down palpabral fissures [93.3%], long eye lashes [46.6%] followed by heavy eye brows [40%], strabismus [33.3%] and micro phthalmia [26.6%]. Hypertetorism was noted in [26.6%], while ptosis, epicanthal folds, 1[ry] optic nerve atrophy and retinal abnormalities in 2 cases each one. The most prominent facial feature was the beaked nose [93.3%]. Microcephaly was evident in 10 cases [66.6%] while triangular face and narrow high arched palate accounting for 53.3%and 40%respectively. Hypoplastic maxilla and low set ears were noted in [20%]. Broad thumbs and bigtoes were present in all the cases [100%] and bilateral clinodactyly of the 5[th] fingers was observed in 6 cases [40%]. Mental retardation was present in 80%of cases and 40%of patients had severe delay in expressive speech. Poor growth was found in 53.2%of the cases, while hirsutism was evident in 20%of the patients. No cytogenesis abnormalities were detected among the studied cases, phenotypic variability was evident in RSTS cases and ocular abnormalities occurred in the majority of patients and were remarkably diverse