Introduction. The LEOPARD syndrome is an autosomal dominant inherited disea
se with severe lentiginosis associated with various abnormalities such as e
lectrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis
, abnormalities of the genitalia, retardation of growth and deafness. Ocula
r manifestations such as coloboma of the iris, the retina and the choroid h
ave not been reported so far.
Patients. We report the cases of two 10-year-old identical twins and their
mother, showing typical manifestations consistent with the LEOPARD syndrome
. Additionally, colobomas of the iris, the retina and the choroid were dete
Results. In addition to the findings typical for the LEOPARD syndrome,we ob
served unusual ocular abnormalities in all three patients. It represents a
discordant phenotype in monozygotic twins.
Conclusion. LEOPARD syndrome is a disease with multiple alterations and abn
ormalities. Although ocular malformations seem to be rare,an ophthalmologic
al examination is recommended in order to initiate early visual rehabilitat