Ocular manifestations of Sotos syndrome

Sotos syndrome (cerebral gigantism) is a congenital syndrome characterized by large body size for patient age, advanced bone age, and unusual facial characteristics with varying levels of cognitive, developmental and perceptual deficits. While more than 150 cases have been reported, only a single case report has been published in the ophthalmic literature. This study briefly reviews the pertinent aspects of this syndrome and reports on the medical, physical, developmental and ocular manifestations of 32 subjects.

Our patient population was obtained from several schools and colleges of optometry and private offices and clinics of optometrists and ophthalmologists. The Sotos Syndrome Support Association assisted in obtaining patients for this study as well. All children had been previously diagnosed as having SS. Commonly accepted methods for evaluating young, non-verbal, and/or handicapped children were used.

Our findings indicate that moderate to high refractive error (hyperopia), nystagmus, and strabismus (esotropia) are commonly associated conditions of this syndrome.

Since many of our subjects exhibited these amblyogenic precursors, a routine optometric vision evaluation should be an essential part of the individual educational and habilitation plan for all children with Sotos syndrome.