Avtor/Urednik		Cvenkel, B; Zupan, M
Naslov		Stickler syndrome: a case report
Tip		članek
Vir		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,
Leto izdaje		1997
Obseg		str. 767-71
Jezik		eng
Abstrakt		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.
Deskriptorji		MYOPIA RETINAL DEGENERATION RETINAL DETACHMENT CATARACT GLAUCOMA PEDIGREE HEARING DISORDERS FACIAL BONES