Prevalence of Retinitis Pigmentosa in Urban and Rural Adult Chinese: The Beijing Eye Study

Xu, Liang; Hu, Lianna; Ma, Ke; Li, J; Jonas, Jost B.

doi:10.1177/112067210601600614

Cited by 60 publications

(57 citation statements)

References 5 publications

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“…Male preponderance was present in the studies reported from Beijing, Denmark and Nigeria. 8,13,17 No statistically significant regional preponderance (rural vs. urban) was noted in the subjects with RP in our study. Notably 2 (15.38%) subjects were relatively asymptomatic whereas others complained of decrease of vision.…”

Section: Discussioncontrasting

confidence: 63%

“…Recently published report from Beijing eye disease study reports prevalence of RP to be 1 in 1000 approximately in the 40 year above population. 8 Prevalence rates as described in other studies like that of Hu et al, Bunker et al, and Bundey et al, were 1:3784, 1:4756 and 1:4869 respectively. 9−11 A nationwide registration of Danish patients with retinitis pigmentosa provided 1890 persons diagnosed during the period 1850-1989, reflecting a prevalence rate of 1:3943.…”

Section: Discussionmentioning

confidence: 68%

“…Beijing eye disease study reports a higher mean age in comparison to our study, however it is statistically insignificant. 8 We did not find any RP patient aged above 70 years. The possible reasons were inadequate sample size in this age group considering the low prevalence rate of RP and possibility of reports relating to mortality and visual impairment.…”

Section: Discussionmentioning

confidence: 89%

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Prevalence of Retinitis Pigmentosa in South Indian Population Aged Above 40 Years

Sen¹,

Bhargava²,

George³

et al. 2008

Ophthalmic Epidemiology

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Section: Discussioncontrasting

confidence: 63%

Section: Discussionmentioning

confidence: 68%

Section: Discussionmentioning

confidence: 89%

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Prevalence of Retinitis Pigmentosa in South Indian Population Aged Above 40 Years

Sen¹,

Bhargava²,

George³

et al. 2008

Ophthalmic Epidemiology

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“…On clinical examination, the retina of aVected individuals commonly shows pallor of the optic disc, attenuated retinal vessels, atrophy of the retinal pigment epithelium (RPE) and pigmentary deposits within the retina. The population-wide prevalence of RP varies in diVerent regions and ranges from 1:4,000 to 1:1,000 in diVerent parts of the world (Bundey and Crews 1984;Bunker et al 1984;Dandona et al 2001;Xu et al 2006). Non-syndromic RP occurs in autosomal dominant, recessive and X-linked forms with over 60 genes identiWed till date.…”

Section: Introductionmentioning

confidence: 96%

Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23

2011

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Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders resulting in severe visual loss and blindness that have remained incurable till date. We report the mapping of the disease locus in a 3-generation family of Indian origin with autosomal dominant RP (ADRP). Diagnosis of RP and recruitment was made after a complete clinical evaluation of all members. Manifestations of the disease included night blindness with blurred central vision in some cases, loss of peripheral vision, and diffuse degeneration of the retinal pigment epithelium. Linkage analysis using microsatellite markers was carried out on 34 members (14 affected). After testing for linkage to known retinal dystrophy loci as well as a subsequent genome-wide analysis, we detected linkage to markers on chromosome 6q23: D6S262 at 130 cM, D6S457 (130 cM) and D6S1656 (131 cM) gave significant 2-point LOD scores of 3.0-3.8. Multipoint LOD scores of ≥3.0 were obtained for markers between 121 and 130 cM. Haplotype analysis with several markers in the same region on chromosome 6 shows a disease-cosegregating region of about 25 Mb between 109 and 135 Mb. There are no known RP genes in this interval, which contains>100 genes. This study provides evidence for a novel ADRP locus on chromosome 6q23.

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“…elderly Chinese people in Northern China [4]. RP can be transmitted as a dominant, recessive, X-linked, or non-Mendelian trait [5].…”

mentioning

confidence: 99%

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

Liu

Dai

Jiqun

et al. 2008

Biochemical and Biophysical Research Communications

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A six-generation Chinese family with autosomal dominant retinitis pigmentosa (adRP) was identified and characterized. Genome-wide linkage analysis linked the family to markers D19S601 to D19S605, which span the PRPF31 gene on chromosome 19q13.33-13.43 (RP11) (LOD = 5.03). Direct DNA sequence analysis identified a novel splicing mutation (IVS1 +1 G > T) in affected family members, but not in unaffected family members and 200 normal controls. The splicing mutation occurs at the splicing donor of intron 1. Real time PCR with lymphoblastoid RNA samples from family members showed that in comparison to normal family members, the splicing mutation reduced the expression level of the PRPF31 mRNA by 57% in symptomatic patients and by 28% in clinically asymptomatic carriers. Our studies identify a novel splicing mutation in PRPF31 associated with adRP and suggest that the penetrance of RP11 mutations may be correlated with the expression level of the PRPF31 mRNA. KeywordsAutosomal dominant retinitis pigmentosa; PRPF31; Splicing mutation; Genetics; Linkage Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive degeneration of the peripheral retina, night blindness, constriction of visual field, and eventual loss of visual acuity. It is one of the leading causes of blindness in adults. Other typical features of RP include bone spicule-like retinal pigmentary deposits and reduced amplitudes or absent electroretinographic responses [1]. RP is the most frequent form of inherited retinopathies and has an incidence of 1 in 3,500 individuals worldwide [2,3]. The incidence is about 1 in 1,000 *Correspondence authors. E-mail address: E-mail: qkwang@mail.hust.edu.cn or E-mail: wangq2@ccf.org (Q.K. Wang); E-mail: lium@mail.hust.edu.cn (M. Liu). Fax: + 86 27 87794549. f Jingyu Liu and Xiaohua Dai contributed equally to this work Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. The splicing of pre-mRNA in the nucleus is catalyzed by a large ribonucleoprotein complex (spliceosome). The splicesome is composed of the pre-mRNA substrate, small nuclear ribonucleoproteins (snRNPs) U1, U2, U4, U5 and U6, and other splicing factors. The PRPF31 is an integral component of the U4/U6+U5 tri-snRNP. It is thought to be responsible for tethering the tri-snRNP to the splicesome rather than forming or maintaining individual snRNP complexes [6][7][8]. Over 20 different mutations in the PRPF31 gene have been reported to be associated with adRP. The mutations identified to date include missense mutations, deletions, insertions and splicing mutations [2,3,[9][10][11][1...

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Prevalence of Retinitis Pigmentosa in Urban and Rural Adult Chinese: The Beijing Eye Study

Abstract: Retinitis pigmentosa with typical fundus appearance and functional loss may be present in about 1 out of 1000 elderly Chinese in Northern China. Calculated for the whole population in China, the figure would be 1.3 million patients with retinitis pigmentosa.

Cited by 60 publications

References 5 publications

Prevalence of Retinitis Pigmentosa in South Indian Population Aged Above 40 Years

Prevalence of Retinitis Pigmentosa in South Indian Population Aged Above 40 Years

Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

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