Ocular abnormalities in Mowat–Wilson syndrome – a case series of four patients

Kaja Bator1, Weronika Machaj2, Iwona Matus1, Krystian Szypuła3, Marta Misiuk-Hojło4

Affiliacja i adres do korespondencji
Pediatr Med Rodz 2023. DOI: 10.15557/PiMR.2023.0075

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.

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

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