The effects of the age of onset of strabismus on monocular and binocular visual function in genetically identical twins

Objective: Both genetic and environmental factors are thought to play a role in the pathogenesis of strabismus and subsequent ocular dominance and amblyopia. Our purpose was to compare the characteristics of sensory visual function in 2 adult monozygotic (genetically identical) twins who presented with esotropia at different ages. Methods: Monocular and binocular visual function was measured in the twins. Contrast sensitivity was used to assess monocular function. Suppressive and stereoscopic measurements were undertaken to assess binocular function. All tests were run using a 2-alternative forced choice psychophysical procedure. Eighteen short tandem repeats (STR) were genotyped across the genome in both twins to determine their exact relationship. Results: Twin 1 (nondominant eye OD) was diagnosed with esotropia at 6 months of age, whereas twin 2 (nondominant eye OS) was diagnosed with esotropia at 5 years of age. They underwent a similar corrective surgical intervention soon after diagnosis to correct their esodeviations. Monocular contrast sensitivity was poorer for twin 1, particularly at intermediate spatial frequencies. In addition, twin 1 demonstrated complete suppression and unmeasurable stereoscopic function (>300 seconds). On the other hand, twin 2 demonstrated fusion, exhibited only mild suppression, and had near-normal (28 seconds) stereoscopic function. All STR alleles were identical in the twins, proving monozygosity. Conclusions: Sensory measurements of monocular and binocular visual function in these genetically proven monozygotic twins were significantly different, with the earlier onset of esotropia associated with reduced visual function. Twin 2, whose esotropia was diagnosed at the age of 5 years, had near-normal visual function, both monocularly and binocularly. To the best of our knowledge, this represents the first study of a genetically identical sibling pair with strabismus. By eliminating the genetic differences between these patients, we are able to make powerful observations about the effect of environment on visual function in strabismus.