LEOPARD syndrome with iris-retina-choroid coloboma

Citation
G. Rudolph et al., LEOPARD syndrome with iris-retina-choroid coloboma, OPHTHALMOLO, 98(11), 2001, pp. 1101-1103
Citations number
18
Language
TEDESCO
art.tipo
Article
Categorie Soggetti
Optalmology
Journal title
OPHTHALMOLOGE
ISSN journal
0941-293X → ACNP
Volume
98
Issue
11
Year of publication
2001
Pages
1101 - 1103
Database
ISI
SICI code
0941-293X(200111)98:11<1101:LSWIC>2.0.ZU;2-L
Abstract
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 cted. 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 ion.