Abstract

MORAN MARTIN, Yahima; MENENDEZ HERNANDEZ, Yanaisy Caridad  and  DENCAS, Marialis Gómez. Ophthalmological manifestations compatible with Waardenburg syndrome. Rev Cubana Oftalmol [online]. 2019, vol.32, n.3  Epub Sep 01, 2019. ISSN 1561-3070.

Waardenburg syndrome is a genetic disorder with diagnostic criteria such as dystopia canthorum, iris pigmentary abnormalities, hypertelorism and synophrys. A case is presented of two members of the same family who attend the ophthalmology service for manifestations compatible with Waardenburg syndrome. The two patients are a 12-year-old girl with a typical association, which includes synophrys, iris pigmentary alterations (brilliant blue iris) and dystopia canthorum, as well as a history of hypoacusis, and her 37-year-old mother, who presents the typical association, which includes alterations in the pigmentation of her hair (a forelock of white hair) and iris (brilliant blue iris), dystopia canthorum and a history of hypoacusis. The purpose of the study is to present two cases from the same family with a condition which is infrequent in the specialty. However, ophthalmological manifestations may be found which are compatible with its diagnosis, which should obviously enough lead to actions aimed at interdisciplinary care and timely referral.

Keywords : Waardenburg syndrome; dystopia canthorum; family.

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