Avtor/Urednik		Peterlin, B; Canki-Klain, N; Morela, V; Stirn, B; Rainer, S; Cerar, V
Naslov		Prevalence of retinitis pigmentosa in Slovenia
Tip		članek
Vir		Clin Genet
Vol. in št.		Letnik 42, št. 3
Leto izdaje		1992
Obseg		str. 122-3
Jezik		eng
Abstrakt		Two hundred and twenty-nine symptomatic patients with retinitis pigmentosa were ascertained in Slovenia between 1986 and 1990. Twenty-three further patients were identified while data from 63 families (82 patients) were being collected. After correction for underascertainment, a prevalence of 1 in 6023 was estimated in the Slovene population (1,999,477 in 1990). The highest prevalence of 1 in 1902 was found in the age group 65 years and older. Of 63 analysed families, 17 (27 percent) showed autosomal dominant, 13 (21 percent) autosomal recessive, and one family (1.5 percent) X-linked inheritance; in 30 families (47.5 percent) isolated cases were found; and in two families the mode of inheritance was impossible to determine.
Deskriptorji		RETINITIS PIGMENTOSA ADOLESCENCE ADULT AGED CHILD CHILD, PRESCHOOL GENES, DOMINANT GENES, RECESSIVE INFANT INFANT, NEWBORN LINKAGE (GENETICS) MIDDLE AGE PREVALENCE RETINITIS PIGMENTOSA SEX RATIO SLOVENIA X CHROMOSOME