Mowat–Wilson syndrome is a rare genetic disorder. Patients present with characteristic facial dysmorphia, intellectual disability, and disorders of the nervous, circulatory, gastrointestinal, and genitourinary systems. However, in the available literature there are few descriptions of ocular abnormalities, which are a significant problem among children diagnosed with Mowat–Wilson syndrome. This article reports four clinical cases, focusing mainly on the ocular abnormalities that occur during the course of the disease. Even though ophthalmic manifestations, based on the current data, affect less than 10% of patients, if Mowat–Wilson syndrome is suspected or diagnosed, the child should be referred to a medical centre with the highest level of referral for full diagnostics and implementation of specialised treatment.

Mowat–Wilson syndrome, ocular abnormalities, Hirschsprung’s disease, intellectual disability syndrome