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Prevalence of retinitis pigmentosa and allied disorders in Denmark
Author(s) -
Haim Marianne
Publication year - 1992
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1992.tb02142.x
Subject(s) - retinitis pigmentosa , heredity , mendelian inheritance , danish , medicine , epidemiology , population , pediatrics , hereditary diseases , genetics , ophthalmology , biology , disease , pathology , retinal , gene , linguistics , philosophy , environmental health
Abstract A national epidemiological study revealed 1301 prevalent cases of retinitis pigmentosa (RP) in the Danish population on January 1, 1988. The corresponding number of 974 families were analyzed with respect to Mendelian inheritance groups. Thirty families, comprising 6.9% of the prevealent RP‐cases, were categorized with an autosomal dominant inheritance pattern. In 187 families, 22.6% of RP‐cases, autosomal recessive heredity was encounterted. X‐linked heredity was found in 45 families, 10.8% of the RP‐cases. Simplex RP‐cases comprised 562 persons (43.2% of RP‐cases). About a fourth of the non‐systemic X‐linked cases were females. Half of these had an age at onset after 30 years, but a third had their first RP‐symptoms before age 18 years. A representative fraction of parents to non‐systemic autosomal dominant, autosomal recessive, X‐linked, and simplex cases were evaluated concerning their age at the time they had their first affected child. Mothers of the male simplex cases were of statistically significant higher age than mothers of the other inheritance groups. This may imply a high rate of new mutations among simplex cases, especially on the X‐chromosome.