Waardenburg syndrome (WS) type I is a non-progressive auditory-pigmentary 
disorder comprising congenital sensorineural hearing loss and pigmentary 
disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral 
displacement of the inner canthi). Affected individuals may have higher risk of: 
neural tube defects, cleft lip and palate, limb abnormalities, and Hirschsprung 
disease. The diagnosis is clinical and should be considered if the individual 
has two major or one major plus two minor criteria. PAX3 is the only known gene 
associated to the syndrome. Nevertheless, its use is mostly for genetic 
counseling. Regarding different diagnosis, we may list: other causes of 
non-progressive auditory-pigmentary disorder comprising congenital sensorineural 
hearing loss, other types of Waardenburg syndrome, piebaldism, albinism, 
vitiligo and Teitz syndrome. This paper presents a case of an eleven year old 
boy with deafness and ophthalmologic alterations, based on his files and exams. 
It reinforced the importance of the ophthalmologist contributing for the 
diagnosis of this rare systemic disease, as it includes some ophthalmologic 
alterations. We remind that the early diagnosis allows adequate stimulation for 
the hearing loss, as well as preventive measures in case of pregnant women 
affected by genetic counseling.