Author/Editor     Peterlin, B; Canki-Klain, N; Morela, V; Stirn, B; Rainer, S; Cerar, V
Title     Prevalence of retinitis pigmentosa in Slovenia
Type     članek
Source     Clin Genet
Vol. and No.     Letnik 42, št. 3
Publication year     1992
Volume     str. 122-3
Language     eng
Abstract     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.
Descriptors     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