It is a genetic disease linked to the X chromosome, where there is a disorder in the biogenesis of melanosomes. Its manifestations are mild skin abnormalities and congenital visual impairment. It is characterized by infantile nystagmus, decreased visual acuity, hypopigmentation of the pigment epithelium of the iris and the fundus. Significant refractive abnormalities appear, have reduced or absent binocular functions, photophobia, and strabismus. It is a non-progressive disorder and visual acuity remains stable throughout life, often gradually improving in mid-adolescence.

Treatment: includes the use of visual aids and changes in the environment to expand the limits of your vision. Sometimes surgery for strabismus is helpful, but usually it will not result in acute total eye coordination.