Eye Formation and Vision Issues

It is recommended that girls receive a comprehensive ophthalmological examination between 12 and 18 months of age or at the time of diagnosis, if at an older age, with emphasis on early correction of eye refractive errors. Multiple vision issues are found in about 35% those with Turner Syndrome (392). Early detection and correction of refractive errors are vital to prevent vision loss.

An ophthalmological evaluation should be part of the regular physical examination.

These are some possible eye & vision issues:

Strabismus and amblyopia can occur in a one-third of females with Turner Syndome. This can be either a disorder of the brain in coordinating the eyes, or of one or more of the relevant muscles’ power or direction of motion.

Amblyopia, also known as lazy eye, is a disorder of the visual system that is characterized by a vision deficiency in an eye that is otherwise physically normal, or out of proportion to associated structural abnormalities of the eye. It has been estimated to affect 1–5% of the population.

Hyperopia and myopia is far and near-sightedness and is prevalent in 40% of girls and women with TS.

Ptosis is a drooping or falling of the upper or lower eyelid found in 16% of TS population.

Epicanthal fold is the upper eyelid fold that covers inner corner of eye.

Hypertelorism is an increased distance between eyes.

Color blindness of red-green occurs similarly to that of males (8%).

To read more about eyes and vision issues, scroll to page(s) G38 in the Clinical Guidelines found here.