Author/Editor		Cvenkel, B; Zupan, M
Title		Stickler syndrome: a case report
Type		članek
Source		In: Sueveges I, Follmann P, editors. SOE '97. 11th congress of the European society of ophthalmology. Vol 2; 1997 Jun 1-5; Budapest. Bologna: Monduzzi editore,
Publication year		1997
Volume		str. 767-71
Language		eng
Abstract		We report a pedigree with Stickler syndrome. In 20 family members of four generations 12 affected individuals were identified. In all high myopia at least -8.00 Diopters with vitreoretinal degenerative changes was present. Retinal detachments, cataracts, glaucoma were present in some of them. of systemic features the most prominent was severe hearing deficit present in all the ten tested family members, epiphyseal dysplasia and maxillofacial hypoplasia in four affected family members. Different, but also the same mutations in type II collagen cause different clinical phenotypes. Genetic analysis is required to enable prenatal diagnosis and counselling in the presented family.
Descriptors		MYOPIA RETINAL DEGENERATION RETINAL DETACHMENT CATARACT GLAUCOMA PEDIGREE HEARING DISORDERS FACIAL BONES