P 96LEOPARD syndrome with colobomata of iris, retina and choroid in monozygotic twins. (MIM # 151100)
G. Rudolph, H. D. Schworm, C. Haritoglou, C. Niederdellmann, S. J. Fröhlich, K-P. Boergen
Introduction: LEOPARD is an acronym for the manifestation of this syndrome, marked by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. Specific ocular abnormalities are not described in the literature so far. LEOPARD syndrome shows an autosomal dominant inheritance.
Methods: We describe monozygotic twins and her mother, all affected with typical signs of multiple lentigines syndrome, mild pulmonal stenosis and consecutive hypertrophic cardiomyopathy.
Results: The monozygotic twins, show typical signs of multiple lentigines, mild pulmonal stenosis and colobomata of iris, retina and choroid in an asymmetric appearance and different severity. Visual acuity in the first twin was 1.0 and 0.6. The macula region was affected only on the OS. The second twin demonstrated visual acuity of 0.08 and 0.1. The macula was affected on both eyes and the optic disc was involved in the incomplete closure of the embryonic fissure. Hyperopia could be measured in a range of 3.75 dpt and 8.75 dpt. Astigmatism was 2 dpt. The mother showed only colobomata of the iris and visual acuity of 1.0 on both eyes.
Discussion: Apart from hypertelorism there were no descriptions of specific abnormalities of the eye or of incomplete closure of the embryonic fissure in patients with LEOPARD syndrome. We report on monozygotic twins with typical signs of colobomata of the iris, retina and choroid and her mother with colobomata of the iris. There is the question, wether this patients present a variant phenotype of LEOPARD syndrome or an association. The background and genetic localisation of the disease is unknown. None.
Department of Ophthalmology, Ludwig-Maximilians-Universität, Mathildenstrasse 8, D-80336 München