Avtor/Urednik		Stirn-Kranjc, B; Canki-Klain, N; Kaplan, J
Naslov		Norriejeva bolezen
Tip		članek
Vir		In: Stirn-Kranjc B, editor. Zbornik referatov 24. mednarodni simpozij oftalmologov Slovenije in Hrvaške; 1998 dec 4-5; Otočec. Ljubljana: Združenje oftalmologov Slovenije,
Leto izdaje		1999
Obseg		str. 117-22
Jezik		slo
Abstrakt		Norrie's disease (ND) is a rare, recessive X linked disease. The affected males are birth or early childhood. ND is characterised by vitreoretinal dysplasia with retrolental masses (pseudoglioma), phthisis bulbi is possible. The disease is associated with mental retardation (a quarter to two thirds) and hearing impairment (one third) of the patients, manifested even in the older age. The first slovene Norrie's family is presented, diagnosed on the basis of genetic councelling.
Deskriptorji		BLINDNESS VITREORETINOPATHY, PROLIFERATIVE GENES, RECESSIVE MENTAL RETARDATION HEARING LOSS, CONDUCTIVE MUTATION AGE OF ONSET