WordNet
- any degenerative disorder resulting from inadequate or faulty nutrition
- in or relating to the retina of the eye; "retinal cells"
- the innermost light-sensitive membrane covering the back wall of the eyeball; it is continuous with the optic nerve
PrepTutorEJDIC
- 栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)
- 世襲の,親譲りの / 遺伝的な,遺伝性の
- (目の)網膜
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- 1. 網膜剥離 retinal detachment
- 2. 未熟児網膜症 retinopathy of prematurity
- 3. 糖尿病性網膜症の分類及び臨床的特徴 classification and clinical features of diabetic retinopathy
- 4. 糖尿病性網膜症の病因 pathogenesis of diabetic retinopathy
- 5. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
English Journal
- Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
- Glöckle N1, Kohl S2, Mohr J1, Scheurenbrand T1, Sprecher A1, Weisschuh N2, Bernd A3, Rudolph G4, Schubach M1, Poloschek C5, Zrenner E3, Biskup S1, Berger W6, Wissinger B2, Neidhardt J7.Author information 1CeGaT GmbH, Tübingen, Germany.2Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.3Centre for Ophthalmology, University of Tübingen, Germany.4University Eye Hospital, Ludwigs-Maximilians-University, Munich, Germany.5Department of Ophthalmology, University of Freiburg, Freiburg, Germany.61] University of Zurich, Institute of Medical Molecular Genetics, Schwerzenbach, Switzerland [2] Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland [3] Neuroscience Center Zurich (ZNZ), University and ETH Zurich, Zurich, Switzerland.7University of Zurich, Institute of Medical Molecular Genetics, Schwerzenbach, Switzerland.AbstractHereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different forms of RD can be caused by mutations in >100 genes, including >1600 exons. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. So far, NGS is not routinely used in gene diagnostics. We developed a diagnostic NGS pipeline to identify mutations in 170 genetically and clinically unselected RD patients. NGS was applied to 105 RD-associated genes. Underrepresented regions were examined by Sanger sequencing. The NGS approach was successfully established using cases with known sequence alterations. Depending on the initial clinical diagnosis, we identified likely causative mutations in 55% of retinitis pigmentosa and 80% of Bardet-Biedl or Usher syndrome cases. Seventy-one novel mutations in 40 genes were newly associated with RD. The genes USH2A, EYS, ABCA4, and RHO were more frequently affected than others. Occasionally, cases carried mutations in more than one RD-associated gene. In addition, we found possible dominant de-novo mutations in cases with sporadic RD, which implies consequences for counseling of patients and families. NGS-based mutation analyses are reliable and cost-efficient approaches in gene diagnostics of genetically heterogeneous diseases like RD.
- European journal of human genetics : EJHG.Eur J Hum Genet.2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.
- Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different forms of RD can be caused by mutations in >100 genes, including >1600 exons. Consequently, next generation sequencing (
- PMID 23591405
- PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
- Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S.Author information 1 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany.AbstractBoucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities are allelic for recessive mutations in the gene PNPLA6. In five of seven Boucher-Neuhäuser syndrome/Gordon Holmes syndrome families, we identified nine rare conserved and damaging mutations by applying whole exome sequencing. Further, by dissecting the complex clinical presentation of Boucher-Neuhäuser syndrome and Gordon Holmes syndrome into its neurological system components, we set out to analyse an additional 538 exomes from families with ataxia (with and without hypogonadism), pure and complex hereditary spastic paraplegia, and Charcot-Marie-Tooth disease type 2. We identified four additional PNPLA6 mutations in spastic ataxia and hereditary spastic paraplegia families, revealing that Boucher-Neuhäuser and Gordon Holmes syndromes in fact represent phenotypic clusters on a spectrum of neurodegenerative diseases caused by mutations in PNPLA6. Structural analysis indicates that the majority of mutations falls in the C-terminal phospholipid esterase domain and likely inhibits the catalytic activity of PNPLA6, which provides the precursor for biosynthesis of the neurotransmitter acetylcholine. Our findings show that PNPLA6 influences a manifold of neuronal systems, from the retina to the cerebellum, upper and lower motor neurons and the neuroendocrine system, with damage of this protein causing an extraordinarily broad continuous spectrum of associated neurodegenerative disease.
- Brain : a journal of neurology.Brain.2013 Dec 19. [Epub ahead of print]
- Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that bot
- PMID 24355708
- [Specific Gene Therapy for Hereditary Retinal Dystrophies - An Update.]
- Stieger K, Lorenz B.Author information Justus-Liebig-Universität Giessen, Klinik und Poliklinik für Augenheilkunde, Gießen.AbstractTreatment possibilities based on specific gene therapy strategies have become reality for a small number of patients with hereditary retinal dystrophies and are currently under investigation in several clinical trials worldwide. The most advanced studies are for patients suffering from mutations in the RPE65 gene. In addition, studies are ongoing for patients with disease causing mutations in the MERTK, REP1, ABCA4, or Myosin7A gene. Depending on the size of the gene copy to be transferred, two vectors are currently used in clinical trials: vectors based on adeno-associated virus (AAV) or on lentivirus (equine infectious anaemia virus, EIAV). An important aspect of current research includes the capacity to objectively measure the treatment effect in patients, since this is currently limited. This article gives an overview of the current state of specific gene therapy for hereditary retinal dystrophies.
- Klinische Monatsblatter fur Augenheilkunde.Klin Monbl Augenheilkd.2013 Dec 10. [Epub ahead of print]
- Treatment possibilities based on specific gene therapy strategies have become reality for a small number of patients with hereditary retinal dystrophies and are currently under investigation in several clinical trials worldwide. The most advanced studies are for patients suffering from mutations in
- PMID 24327302
Japanese Journal
- 黄斑ジストロフィの遺伝子異常
- 藤波 芳,角田 和繁
- 眼科 53(2), 239-255, 2011-02
- NAID 40018718662
- 網膜色素上皮層に初発あるいは主要病変部位がある黄斑ジストロフィ
- 福井 勝彦,花田 一臣,吉田 晃敏
- 眼科写真 25, 6-17, 2008
- … 出版社版The concept of macular dystrophy denotes a group of disorders which arise in the posterior pole of the ocular fundus from an underlying enzymatic error or metabolic error defined by a respectively responsible gene. … For the diagnosis of this disease, the following four criteria should be fulfilled: 1) binocular involvement, 2) a familial/hereditary disease, 3) no evidence of extrinsic etiologic factors, and 4) a progressive disease. …
- NAID 120001025947
- In Vivo Response of the Rat's Retinal Pigment Epithelium to Azide at Advanced Stages of Hereditary Retinal Dystrophy.
- ANDO Hiroshi,NOELL Werner K.
- The Japanese Journal of Physiology 43(3), 323-333, 1993
- NAID 130004435491
Related Links
- 11 Jan 2010 ... Hereditary retinal dystrophies are a broad (and growing) group of hereditary disorders affecting the retina. About 150 children and 250 adults of w...
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★リンクテーブル★
| リンク元 | 「遺伝性網膜ジストロフィー」 |
| 関連記事 | 「dystrophy」「retinal」「hereditary」「retinal dystrophy」 |
「遺伝性網膜ジストロフィー」
「dystrophy」
- n.
- (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー
- 栄養障害。細胞や組織の物質代謝障害によって変性・萎縮などの起こること。
「retinal」
「hereditary」
- adj.
- 遺伝性の、遺伝の