Author/Editor		Hawlina, M; Jarc, M; Raič, P; Jaki, P; Brecelj, J; Peterlin, B
Title		Clinical and genetic heterogeneity in retinitis pigmentosa
Type		članek
Source		In: Zidar J, editor. Proceedings of the Symposium on update in neurogenetics with 12th dr. Janez Faganel memorial lecture; 1996 Oct 4-5; Ljubljana. Ljubljana: University institute of clinical neurophysiology,
Publication year		1996
Volume		str. 90-104
Language		eng
Abstract		Clinical features of retinitis pigmentosa are discussed in relation to different modes of inheritance. Three typical families with autosomal dominant, autosomal recessive and X-linked trait are presented. Detailaed history and results of clinical and electrodiagnostic examination are shown and different clinical patterns of the disease depending on the mode of inheritance are compared to each other.
Descriptors		RETINITIS PIGMENTOSA PEDIGREE CHILD ADOLESCENCE ADULT MIDDLE AGE AGED DNA MUTATIONAL ANALYSIS RETINITIS PIGMENTOSA