Résumé

Iris heterochromia is a congenital anomaly of iris colouration that occurs rarely. Whatever its intensity or laterality, it is often indicative of a malformative syndrome. The aim of this study was to investigate the epidemiological, clinical and therapeutic features of Waardenburg syndrome in the ophthalmology department of the Thies regional hospital. We report three cases of iris heterochromia including this syndrome diagnosed over a period of 4 years. Irial heterochromia was the main reason for consultation in the two girls, while the boy was consulted for sickle cell retinopathy. Auditory evoked potentials were carried out in all the children, revealing bilateral sensorineural hearing loss, thus making it possible to establish the association between congenital iris heterochromia, sensorineural hearing loss and Waardenburg syndrome. The diagnostic criteria of the Waardenburg consortium were used to classify the first and third patients as type 1 and the second patient as type 4. The absence of diagnostic certainty due to the contribution of genetics should never lead to a misdiagnosis. Ultimately, congenital iris heterochromia is a reality; however, its unilateral manifestation is rare. Ideally, clinicians should look for associated anomalies, as this heterochromia could conceal a malformative syndrome, as the management of these patients requires multidisciplinary consultation.

Mot-clés :

Syndrome, Waardenburg, Heterochromia, Hearing Loss, Thies