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

Hayakawa, Mutsuko; Fujiki, Keiko; Kanai, Atsushi; Matsumura, Miyo; Honda, Yoshio; Sakaue, Hiroshi; Tamai, Makoto; Sakuma, Tomoko; Tokoro, Takashi; Yura, T; Katayama, Nobuyuki; Matsui, M; Yuzawa, Mitsuko; Oguchi, Yoshihisa; Akeo, Kiyoshi; Adachi, Eri; Kimura, T.; Miyake, Yoichi; Horiguchi, Masayuki; Wakabayashi, K.; Ishizaka, Nobuto; Koizumi, Keigo; Uyama, M; Tagami, Nobuko; Ishibashi, Tatsuro; Honda, Tetsuya; Nakagawa, Takashi; Takeda, Masako; Choshi, K; Watanabe, Michio; Tamura, Osamu; Shimowake, Naomi; Ueno, Hideki; Yoshida, Kazuyuki; Isashiki, Yasushi; Ohba, Norio

doi:10.1016/s0021-5155(96)00019-6

Cited by 17 publications

(5 citation statements)

References 6 publications

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“…A multicentre 2‐month study in Japan was carried out in 1989, initially in 13 hospitals (Hayakawa et al. 1993) and followed up later (Hayakawa et al. 1997) in a total of 18 hospitals.…”

Section: Previous Danish Rp‐literaturementioning

confidence: 99%

The epidemiology of retinitis pigmentosa in Denmark

Haim¹

2002

Acta Ophthalmologica Scandinavica

223

147

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“…A multicentre 2‐month study in Japan was carried out in 1989, initially in 13 hospitals (Hayakawa et al. 1993) and followed up later (Hayakawa et al. 1997) in a total of 18 hospitals.…”

Section: Previous Danish Rp‐literaturementioning

confidence: 99%

The epidemiology of retinitis pigmentosa in Denmark

Haim¹

2002

Acta Ophthalmologica Scandinavica

223

147

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“…1 Affected people have been reported in diverse ethnic groups worldwide. [2][3][4][5][6] Recently, mutations in two genes, MAK 7,8 and DHDDS, 9,10 were found to cause autosomal recessive RP (arRP) in patients of Ashkenazi Jewish ancestry, i.e., in descendants of Israelites who migrated from the Middle East to Central and Eastern Europe during the Middle Ages.…”

Section: Introductionmentioning

confidence: 99%

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry

Venturini

Koskiniemi-Kuendig

Harper

et al. 2015

Genetics in Medicine

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Purpose: Retinitis pigmentosa is a Mendelian disease with a very elevated genetic heterogeneity. Most mutations are responsible for less than 1% of cases, making molecular diagnosis a multigene screening procedure. In this study, we assessed whether direct testing of specific alleles could be a valuable screening approach in cases characterized by prevalent founder mutations. Methods:We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. All patients were unrelated; 35 reported Jewish ancestry and the remainder reported mixed ethnicity. Results:We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry. Haplotype analyses revealed that inheritance of the MAK mutation was attributable to a founder effect. Conclusion: In contrast to most mutations associated with retinitis pigmentosa-which are, in general, extremely rare-the two alleles investigated here cause disease in approximately one-third of North American patients reporting Jewish ancestry. Therefore, their screening constitutes an alternative procedure to large-scale tests for patients belonging to this ethnic group, especially in timesensitive situations. Genet Med advance online publication 25 September 2014

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“…Previous epidemiological studies have estimated a prevalence rate for RP of 1 in 4000-8000 of the population [8], and an 18-hospital multicenter study in Japan carried out in 253 patients with typical RP reported a prevalence rate of 1 in 7000 [9]. The present data were collected through a direct collaboration with the Japanese Retinitis Pigmentosa Society, using a questionnaire mailed from our project team.…”

Section: Discussionmentioning

confidence: 99%

Survey in to the Prevalence of Hearing Loss in Patients Diagnosed with Retinitis Pigmentosa

et al. 2004

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Sensorineural hearing loss is the most common disease associated with systemic retinitis pigmentosa (RP). We have conducted an epidemiological study to assess the correlation of age at onset of visual symptoms and hearing loss associated with RP. Epidemiological data was derived from a questionnaire-based study of patients who are registered members of the Japanese Retinitis Pigmentosa Society (n = 3200). The questionnaire was mailed to these patients in 2002, and information was requested regarding age at onset of visual disturbance, awareness of hearing loss and the presence of progressive hearing loss, age at onset of hearing loss, awareness of tinnitus, and history of audiometric examination and hearing aid usage. 26.1% of the questionnaires were returned, and data for 828 patients with RP diagnosed by an ophthalmologist were evaluated. Cochlear symptoms were reported by 356 patients (43.0% of the total population), with hearing loss in 29.5%, tinnitus in 31.5% and hearing loss and tinnitus in 39.3% of the 356 patients. Of these 356 patients, progressive hearing loss was reported by 44.9% and was independent of age at onset of cochlear symptoms. The mean age at onset of visual symptoms was higher for patients with progressive hearing loss, and a significant correlation was found between the age at onset of visual symptoms and hearing loss for patients who were older at onset of the symptoms (>30 years of age). Onset of hearing loss occurs later and hearing loss is also more progressive for patients with late onset of RP. This suggests that particular care regarding hearing loss is necessary for this patient population, and that cooperation between opthalmologists and otologists is required for diagnosis of RP-hearing impairment-associated syndromes in this group of patients.

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

Cited by 17 publications

References 6 publications

The epidemiology of retinitis pigmentosa in Denmark

The epidemiology of retinitis pigmentosa in Denmark

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry

Survey in to the Prevalence of Hearing Loss in Patients Diagnosed with Retinitis Pigmentosa

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