Abstract:
:A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling.
journal_name
Jpn J Ophthalmoljournal_title
Japanese journal of ophthalmologyauthors
Hayakawa M,Fujiki K,Kanai A,Matsumura M,Honda Y,Sakaue H,Tamai M,Sakuma T,Tokoro T,Yura T,Kubota N,Kawano S,Matsui M,Yuzawa M,Oguchi Y,Akeo K,Adachi E,Kimura T,Miyake Y,Horiguchi M,Wakabayashi K,Ishizaka N,Koidoi
10.1016/s0021-5155(96)00018-4subject
Has Abstract,Author List Incompletepub_date
1997-01-01 00:00:00pages
1-6issue
1eissn
0021-5155issn
1613-2246pii
S0021515596000184journal_volume
41pub_type
杂志文章,多中心研究abstract::A newly developed model of keratoepithelioplasty (KEP) in the rat was used to analyze the effect of anterior chamber-associated immune deviation on the suppression of corneal allograft rejection. The right eyes of Fisher rats received an anterior chamber (AC) injection of lymphocyte suspension from Dark Agouti (DA) ra...
journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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abstract::Spontaneous retinal degeneration of Celestial goldfish was studied histologically and electrophysiologically. Retinal degeneration was divided into three stages. Until the age of 75 days (Stage 0) the retina showed normal histological development and the electroretinograms (ERGs) exhibited dominant b-waves similar to ...
journal_title:Japanese journal of ophthalmology
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abstract::The glycocalyx, present on the surface of the corneal epithelium, contains sialoglycoconjugates. The developmental change in the sialylated residues may be evaluated by examining the expression of the sialyltransferase mRNA. We examined the distribution of Gal beta 1,3GalNAc alpha 2,3-sialyltransferase mRNA in rat cor...
journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
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更新日期:1988-01-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10384-010-0812-2
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abstract:: ...
journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章,评审
doi:10.1007/s10384-018-0627-0
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abstract::Astrocytes were cultured from the cerebral cortices of newborn rabbits and were so confirmed by staining of the glial fibrillary acidic protein (GFAP). In Experiment I, the astrocytes of newborn rabbits of both sexes from one mother were pooled and suspended in a culture medium, and approximately 1-2 X 10(4) cells wer...
journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
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doi:
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pub_type: 杂志文章
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
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doi:
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journal_title:Japanese journal of ophthalmology
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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