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Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa. 1997

M Hayakawa, and K Fujiki, and A Kanai, and M Matsumura, and Y Honda, and H Sakaue, and M Tamai, and T Sakuma, and T Tokoro, and T Yura, and N Kubota, and S Kawano, and M Matsui, and M Yuzawa, and Y Oguchi, and K Akeo, and E Adachi, and T Kimura, and Y Miyake, and M Horiguchi, and K Wakabayashi, and N Ishizaka, and K Koizumi, and M Uyama, and N Ohba
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.

Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genetic analysis was done to determine the prevalence of ARRP indirectly, to provide an estimation of changing trends in the overall prevalence of RP. Data on the frequency of consanguinity and marriage year of normal parents of 59 ARRP patients were obtained from a nationwide multicenter survey of typical retinitis pigmentosa conducted in 1990. The gene frequency of ARRP was 0.01145 (Dahlberg's formula). In 1990, the number of young symptomatic ARRP patients decreased, while the number of patients aged 40 years and older increased. The total number of symptomatic ARRP patients in 1990 was nearly 21% higher than in 1970. Despite a dramatic decline in consanguinity in recent decades in Japan, the number of ARRP patients has increased. This increase is attributed to greater longevity and overall population growth. Our results suggest that the total number of RP patients has not decreased, and may even have increased.

UI MeSH Term Description Entries
D007564 Japan A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo. Bonin Islands
D008297 Male Males
D008393 Marriage The social institution involving legal and/or religious sanction whereby individuals are joined together. Marital Relationship,Arranged Marriage,Commonlaw Marriage,Consensual Union,Consummation of Marriage,Dowry,Husband-Wife Comparisons,Intermarriage,Marriage Age,Marriage Duration,Marriage Patterns,Marriage Postponement,Mate Selection,Multiple Marriages,Nuptiality,Polygamy,Polygyny,Remarriage,Same-Sex Marriage,Age, Marriage,Ages, Marriage,Arranged Marriages,Commonlaw Marriages,Comparison, Husband-Wife,Comparisons, Husband-Wife,Consensual Unions,Dowries,Duration, Marriage,Husband Wife Comparisons,Husband-Wife Comparison,Intermarriages,Marital Relationships,Marriage Ages,Marriage Consummation,Marriage Consummations,Marriage Pattern,Marriage Postponements,Marriage, Arranged,Marriage, Commonlaw,Marriage, Same-Sex,Marriages,Marriages, Arranged,Marriages, Commonlaw,Marriages, Multiple,Marriages, Same-Sex,Mate Selections,Postponement, Marriage,Postponements, Marriage,Relationship, Marital,Relationships, Marital,Remarriages,Same Sex Marriage,Same-Sex Marriages,Selection, Mate,Selections, Mate,Union, Consensual,Unions, Consensual
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D011159 Population Surveillance Ongoing scrutiny of a population (general population, study population, target population, etc.), generally using methods distinguished by their practicability, uniformity, and frequently their rapidity, rather than by complete accuracy. Surveillance, Population
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition

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