Epidemiology of retinitis pigmentosa in Denmark

Acta Ophthalmol Scand Suppl. 2002:(233):1-34. doi: 10.1046/j.1395-3907.2002.00001.x.

Abstract

A nation-wide registration of Danish cases of retinitis pigmentosa (RP) provided 1890 persons diagnosed during the period 1850-1989. Prevalent at 1 January 1988 were 1301 persons (1:3943) comprising a multitude of different RP-types. Age specific prevalence rates demonstrated increasing rates of RP during the first four decades of life and a rather stable prevalence over the next 20-30 years. Corrected for incompleteness, a late decrease was found, reflecting an incomplete ascertainment of the oldest patients. A moving average method indicated an even later steady state value for the age-specific prevalence. The Danish prevalence figures were standardized according to the WHO World Standardized Prevalence Rates and compared with large studies from the USA and UK. No statistically significant difference was found. Usher syndrome was present in 12% of all RP-cases and Bardet-Biedl syndrome comprised 5%. Mental retardation was found in 144 cases (11%), mostly characterized by atypical RP. Nineteen per cent of patients affected by nonsystemic RP had an onset later than 30 years of age, whereas only a few per cent of persons with systemic RP had an RP onset after age 30 years. The Mendelian inheritance type of all cases was evaluated according to an unambiguous genetic classification, finding a larger amount of X-linked RP compared with other studies. Among nonsystemic RP-cases, 14.3% were found to be inherited as an X-linked trait whereas only 8.4% were autosomal dominantly inherited. The largest fraction was, as in previous materials, the simplex group (isolated cases) comprising 42.9% of the nonsystemic RP patients. Some factors influencing the results are discussed, with special emphasis on the problems associated with precise definitions of the Mendelian inheritance groups. A diagram according to the author's definition was constructed as a guideline ready for clinical application.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Denmark / epidemiology
  • Female
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Pedigree
  • Prevalence
  • Registries
  • Retinitis Pigmentosa / classification
  • Retinitis Pigmentosa / epidemiology*
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / pathology
  • Sex Distribution