Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.

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 Ophthalmol

authors

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,Koi

doi

10.1016/s0021-5155(96)00018-4

subject

Has Abstract,Author List Incomplete

pub_date

1997-01-01 00:00:00

pages

1-6

issue

1

eissn

0021-5155

issn

1613-2246

pii

S0021515596000184

journal_volume

41

pub_type

杂志文章,多中心研究
  • Suppression of graft rejection in rat keratoepithelioplasty by anterior chamber inoculation of donor lymphocytes.

    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:

    authors: Yao YF,Inoue Y,Hara Y,Kiritoshi A,Tano Y,Ohashi Y

    更新日期:1994-01-01 00:00:00

  • Electrophysiological studies of spontaneous retinal degeneration in celestial goldfish (chotengan).

    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

    pub_type: 杂志文章

    doi:

    authors: Sakaue H,Negi A,Matsumura M,Ohkuma M,Honda Y

    更新日期:1987-01-01 00:00:00

  • Expression of distribution of alpha 2,3-sialyltransferase mRNA in rat cornea.

    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

    pub_type: 杂志文章

    doi:

    authors: Uehara F,Ozawa M,Iwakiri N,Ohba N

    更新日期:1995-01-01 00:00:00

  • Clinical studies of Vogt-Koyanagi-Harada's disease.

    abstract::We evaluated the clinical statistics of a total of 186 patients (101 men and 85 women) with Vogt-Koyanagi-Harada's disease seen in the Uveitis Survey Clinic of the Hokkaido University Hospital during the 18-year period from 1966 to 1983. The annual number of new cases showed some change. More new patients were seen in...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Ohno S,Minakawa R,Matsuda H

    更新日期:1988-01-01 00:00:00

  • Association between clinical diagnostic tests and health-related quality of life surveys in patients with dry eye syndrome.

    abstract:PURPOSE:This study was performed to assess the impact of dry eye on patients' quality of life (QOL) and to analyze the association between subjective symptoms and ocular surface findings of dry eye. METHODS:The study population consisted of 158 patients with dry eye aged 20 years or older who visited any of the 15 med...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s10384-010-0812-2

    authors: Mizuno Y,Yamada M,Miyake Y,Dry Eye Survey Group of the National Hospital Organization of Japan.

    更新日期:2010-07-01 00:00:00

  • Scientific Reviewers.

    abstract:: ...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1007/s10384-018-0627-0

    authors:

    更新日期:2018-11-01 00:00:00

  • Preretinal membrane formation in rabbit eyes after intravitreal transplantation of cultured astrocytes.

    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

    doi:

    authors: Mishima N,Yamashita H,Ishii Y,Hori S

    更新日期:1989-01-01 00:00:00

  • Soluble ascorbate free radical reductase in the human lens.

    abstract::A major and a minor ascorbate free radical (AFR) reductase were separated from the soluble fraction in the human lens cortex by DEAE-cellulose ion-exchange column chromatography. These AFR reductases also exhibited diaphorase activity using dichlorophenolindophenol and ferricyanide as electron acceptors. The major AFR...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Bando M,Obazawa H

    更新日期:1994-01-01 00:00:00

  • Effects of a new excitotoxic amino acid, dysiherbaine, on cultured Müller cells.

    abstract:PURPOSE:To determine the pharmacological response when dysiherbaine acts on cultured Müller cells, considering the glutamate receptor functions. Dysiherbaine is a new excitotoxic amino acid, which was recently isolated from the liquid extract of a certain sponge. METHODS:Retinas of adult rabbits were used to culture t...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1016/s0021-5155(01)00488-9

    authors: Minei R

    更新日期:2002-03-01 00:00:00

  • Clinical characteristics of cuticular drusen in the Japanese population.

    abstract:PURPOSE:To investigate the clinical characteristics of eyes with cuticular drusen in Japanese individuals, while paying special attention to large colloid drusen (LCD). STUDY DESIGN:Retrospective case series. METHODS:Eyes with cuticular drusen, from patients of 4 medical institutes in Japan, were investigated. Multim...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s10384-019-00692-5

    authors: Sakurada Y,Tanaka K,Miki A,Matsumoto H,Kawamura A,Mukai R,Akiyama H,Honda S,Mori R,Iijima H

    更新日期:2019-11-01 00:00:00

  • Development of an instrument for measurement of light scattering at the corneal epithelial basement membrane in diabetic patients.

    abstract:PURPOSE:Diabetic complications are associated with abnormality of the basement membranes. We have developed a light-scattering detection system (LSDS) specifically for measurement of light scattering at the corneal epithelial basement membrane, and have determined the reproducibility and clinical significance of the re...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-007-0427-4

    authors: Takahashi N,Wakuta M,Morishige N,Chikama T,Nishida T,Sumii Y

    更新日期:2007-05-01 00:00:00

  • Identification of microglia cell of the rat retina by light and electron microscopy.

    abstract::Distribution of microglia cells was studied in the normal retina of Wistar rats kept in a specific-pathogen-free condition, using a combined technique of light and electron microscopy with the weak silver carbonate staining method of del Rio-Hortega. Typical microglia cells were found mainly in the inner plexiform lay...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Kohno T,Inomata H,Taniguchi Y

    更新日期:1982-01-01 00:00:00

  • Influence of posterior corneal astigmatism on the outcomes of toric intraocular lens implantation in eyes with oblique astigmatism.

    abstract:PURPOSE:To assess whether the outcomes of toric intraocular lens (IOL) implantation in eyes with oblique astigmatism can be improved by direct measurements of posterior corneal astigmatism using anterior segment optical coherence tomography (AS-OCT) instead of by using anterior corneal measurements alone. STUDY DESIGN...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-021-00812-0

    authors: Nakano S,Iida M,Hasegawa Y,Hiraoka T,Oshika T

    更新日期:2021-01-28 00:00:00

  • Survival rate and risk factors for patients with retinoblastoma in Japan. The Committee for the National Registry of Retinoblastoma.

    abstract::Clinical, pathological and follow-up data on the 1,147 cases of retinoblastoma registered in Japan from 1975 to 1982 were statistically analyzed. The cumulative survival rate of the total 1,147 cases was 93.0% at 5 years and 90.3% at 10 years, calculated by the Kaplan-Meier method. The survival rate for the 757 unilat...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors:

    更新日期:1992-01-01 00:00:00

  • Influence of lens cortex on postoperative inflammation and cellular deposits on surface of intraocular lenses in rabbit eye.

    abstract::An animal model was used to evaluate the influence of residual lens cortex on postoperative inflammation and cellular deposits on intraocular lenses (IOLs). Eighteen New Zealand white rabbits underwent bilateral endocapsular phacoemulsification with placement of a one-piece polymethylmethacrylate (PMMA) IOL in the cap...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Tamura M,Monson MC,Davis B,Mamalis N

    更新日期:1991-01-01 00:00:00

  • Effects of intraocular pressure change on movement of FITC-dextran across vitreous-aqueous interface.

    abstract::In an attempt to study the effect of change in the intraocular pressure (IOP) on the status of the vitreous-aqueous interface, the effect of topical bunazosin was studied in the rabbit eye using the new Johnson-Maurice method. This entails an intravitreal injection of FITC-dextran and measurements of its concentration...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Sugiura Y,Araie M

    更新日期:1989-01-01 00:00:00

  • Light and electron microscopic studies of malignant melanoma of conjunctiva and palpebra.

    abstract::The authors experienced one case of malignant melanoma of the superior palpebral conjunctiva and the inferior palpebral skin, originating from benign acquired melanosis of the bulbar conjunctiva which developed in a 48-year-old man. Orbital exenteration including superior and inferior palpebrae was performed, and the ...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Ueno H,Tamai A,Noda K,Kishi S,Iyota K,Masaoka N,Wada H

    更新日期:1983-01-01 00:00:00

  • Endoscopy-guided transcaruncular Jones tube intubation without dacryocystorhinostomy.

    abstract:PURPOSE:To evaluate the functional surgical success, complications, and degree of satisfaction after endoscopy-guided transcaruncular Jones tube intubation without dacryocystorhinostomy (DCR). METHODS:A pair of Westcott scissors was passed into the nose from the side of the caruncle, and the lacrimal bone was penetrat...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-005-0284-y

    authors: Choi WC,Yang SW

    更新日期:2006-03-01 00:00:00

  • Noninvasive functional imaging of the retina reveals outer retinal and hemodynamic intrinsic optical signal origins.

    abstract::We have adapted intrinsic signal optical imaging of neural activity to the noninvasive functional imaging of the retina. Results to date demonstrate the feasibility and potential of this new method of functional assessment of the retina. In response to visual stimuli, we have imaged reflectance changes in the retina t...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1007/s10384-009-0687-2

    authors: Ts'o D,Schallek J,Kwon Y,Kardon R,Abramoff M,Soliz P

    更新日期:2009-07-01 00:00:00

  • Retinal cell death by light damage.

    abstract:PURPOSE:To determine the relationship between apoptotic photoreceptor cell death and the duration of light exposure. METHODS:Ten-week-old male albino rats (Wistar strain) were dark-adapted for 2 days and then exposed to intense light for 12 hours, and 1, 2, 3, 7, 14, 21, and 28 days. The presence of apoptosis was conf...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1016/s0021-5155(99)00011-8

    authors: Aonuma H,Yamazaki R,Watanabe I

    更新日期:1999-05-01 00:00:00

  • Proteomic analysis of human lens epithelial cells exposed to microwaves.

    abstract:PURPOSE:To study proteomic changes in human lens epithelial cells (HLECs) exposed to 1800-MHz Global System for Mobile Communication (GSM)-like microwaves. METHODS:In three separate experiments, HLECs were exposed and sham-exposed (six dishes each) to 1800-MHz GSM-like radiation for 2 h. The specific absorption rates ...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-007-0483-9

    authors: Li HW,Yao K,Jin HY,Sun LX,Lu DQ,Yu YB

    更新日期:2007-11-01 00:00:00

  • Endothelial damage of a donor cornea depending on the donor insertion method during Descemet-stripping automated endothelial keratoplasty in porcine eyes.

    abstract:PURPOSE:To compare endothelial damage of the donor cornea in relation to the method of inserting the donor cornea into the recipient anterior chamber during Descemet-stripping automated endothelial keratoplasty (DSAEK). METHODS:Fifteen enucleated pig eyes were used. The donor corneoscleral buttons were mounted in an a...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-009-0713-4

    authors: Hwang H,Kim M

    更新日期:2009-09-01 00:00:00

  • Retinal pigment epithelium folds as a diagnostic finding of Vogt-Koyanagi-Harada disease.

    abstract:OBJECTIVE:To examine using the folds of the retinal pigment epithelium (RPE) to diagnose Vogt-Koyanagi-Harada (VKH) disease. METHODS:Retrospective clinical review of 57 Japanese patients between July 2005 and April 2009. Optical coherence tomography (OCT), fundus photographs and fluorescein angiography (FA) were studi...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-012-0212-x

    authors: Kato Y,Yamamoto Y,Tabuchi H,Fukushima A

    更新日期:2013-01-01 00:00:00

  • Pharmacological dissection of multifocal electroretinograms of rabbits with Pro347Leu rhodopsin mutation.

    abstract:PURPOSE:To determine whether photoreceptor degeneration in transgenic (Tg) rabbits carrying the Pro347Leu rhodopsin mutation alters the neural activity of the middle and inner retinal neurons. METHODS:Multifocal electroretinograms (mfERGs) were recorded from eight 12-week-old Tg rabbits both before and after intravitr...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-010-0842-9

    authors: Yokoyama D,Machida S,Kondo M,Terasaki H,Nishimura T,Kurosaka D

    更新日期:2010-09-01 00:00:00

  • Keratitis caused by a rare fungus, Malassezia restricta.

    abstract:BACKGROUND:Malassezia species rarely cause keratitis, and, thus, the clinical manifestations of Malassezia keratitis are not well known. CASE:We report the clinical findings in a 70-year-old woman who complained of pain in her left eye. Slit-lamp biomicroscopy showed a corneal ulcer with irregular infiltration, which ...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-007-0447-0

    authors: Suzuki T,Hori N,Miyake T,Hori Y,Mochizuki K

    更新日期:2007-07-01 00:00:00

  • Patients with asteroid hyalosis and visible floaters.

    abstract::Four patients with asteroid hyalosis who complained of seeing multiple spherical floaters were examined. Except for multiple brilliant particles in the gelatinous vitreous, no abnormalities were found by ophthalmoscopic examination. Asteroid bodies usually cause no visual symptoms in most patients. Therefore it is unu...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Noda S,Hayasaka S,Setogawa T

    更新日期:1993-01-01 00:00:00

  • Measurement repeatability of the dynamic Scheimpflug analyzer.

    abstract:PURPOSE:To evaluate the repeatability of corneal deformation parameters measured using a dynamic Scheimpflug analyzer and the impact of baseline clinical factors on the repeatability of each parameter. STUDY DESIGN:Retrospective, cross-sectional study. METHODS:Forty-eight eyes (48 healthy subjects; mean age, 49.0 ± 1...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-017-0534-9

    authors: Miki A,Maeda N,Asai T,Ikuno Y,Nishida K

    更新日期:2017-11-01 00:00:00

  • Colvard pupillometer measurement of scotopic pupil diameter in emmetropes and myopes.

    abstract:PURPOSE:To prospectively compare the scotopic pupil size between emmetropes and myopes using a Colvard pupillometer. METHODS:The pupil diameters of 55 normal subjects and 55 healthy myopic subjects were measured with the Colvard pupillometer in a low-light situation that simulated the level of light encountered while ...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1016/s0021-5155(02)00556-7

    authors: Chaidaroon W,Juwattanasomran W

    更新日期:2002-11-01 00:00:00

  • Expression of alpha- and beta-defensins in human ocular surface tissue.

    abstract:PURPOSE:Defensins are antimicrobial peptides and are classified into three groups, alpha-, beta- and theta-defensins. We investigated the localization of human neutrophil peptides (HNP) 1-3, which are members of the alpha-defensin subfamily, and the expression of human beta-defensin 1 (hBD-1) and hBD-2 in the ocular su...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:10.1007/s10384-004-0163-y

    authors: Ikeda A,Sakimoto T,Shoji J,Sawa M

    更新日期:2005-03-01 00:00:00

  • Falciform retinal fold as sign of familial exudative vitreoretinopathy.

    abstract::We studied family members of 9 patients with falciform retinal fold, and found a number of cases showing features of familial exudative vitreoretinopathy (FEVR) in the fundi. Retinal fold was also seen in the eye of a cousin of the propositus. Three cases with falciform retinal fold were bilateral and 7 cases were uni...

    journal_title:Japanese journal of ophthalmology

    pub_type: 杂志文章

    doi:

    authors: Nishimura M,Yamana T,Sugino M,Kohno T,Yamana Y,Minei M,Sanui H

    更新日期:1983-01-01 00:00:00