[Gene replacement therapy in achromatopsia type 2].

Abstract:

:Achromatopsia is an autosomal recessive inherited retinal disease caused by a complete loss of cone photoreceptor function. About 80 % of achromatopsia patients show mutations in the alpha or beta subunit (A3 and B3) of the cGMP controlled cation channel CNG (cyclic nucleotide-gated channel) of cone photoreceptors. Homologous to the human disease, CNGA3 deficient mice reveal a loss of cone specific functionality leading to degeneration of affected cone photoreceptors. The Institute for Ophthalmic Research in Tübingen has now succeeded in curing achromatopsia ACHM2 in an animal model. In this article, we explain the recombinant adeno-associated virus-based approach in detail. Furthermore, applied non-invasive diagnostic techniques for quality and success control, ERG, SLO and OCT, are described. The success of the therapy is indicated by a restored cone photoreceptor function as well as the neuronal processing of retinal signals resulting in a specific, cone-mediated behaviour. The outstanding results derived from the animal model are the starting point for the first human translation of a gene therapy for achromatopsia in Germany.

journal_name

Klin Monbl Augenheilkd

authors

Mühlfriedel R,Tanimoto N,Seeliger MW

doi

10.1055/s-0034-1368180

subject

Has Abstract

pub_date

2014-03-01 00:00:00

pages

232-40

issue

3

eissn

0023-2165

issn

1439-3999

journal_volume

231

pub_type

杂志文章,评审
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    authors: Pau H

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    doi:

    authors: Fuchs J

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  • [Clinico-histopathologic correlation of ganciclovir-treated cytomegalovirus retinitis].

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    doi:10.1055/s-2008-1050322

    authors: Strasser G,Kramsall P

    更新日期:1987-01-01 00:00:00

  • [The prevalence of bilateral malignant uveal melanoma].

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  • [Experiences with the hand-held autorefractometer "Retinomax" in adults and children].

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    doi:10.1055/s-2008-1035153

    authors: Wesemann W,Dick B

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  • [Medallion lenses, 500 implantations].

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  • [Peripapillary melanoma; 10-year follow-up].

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  • [Histopathological aspects of the surgical treatment of congenital glaucoma].

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    authors: Oosterhuis JA,Fakkel J

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  • [Chiasma injury following skull trauma (author's transl)].

    abstract::After a discussion of the pathomechanism of frontobasal cranial injury with a consecutive chiasmal lesion and diabetes insipidus due to a fracture of the basis of the skull, a personal observation of bitemporal hemianopia with a transient diabetes insipidus after a frontal motorcycle crash is recorded. A short survey ...

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  • [Functional and Anatomic Outcomes of Primary and Secondary Internal Limiting Membrane Transplantation in Large and Persistent Macular Holes].

    abstract:BACKGROUND:The gold standard therapy for full-thickness macular holes (FTMH) is vitrectomy (PPV) with peeling of the internal limiting membrane (ILM), gas tamponade of the vitreous cavity and postoperative face-down positioning. Nevertheless, eyes with large macular holes (> 400 µm) and surgical failures remain difficu...

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  • [Nystagmus and torticollis in albinism (author's transl)].

    abstract::Two pairs of albinotic brothers, a severely myopic albino and an aged albinotic woman patient were examined; visual acuity was 0.2. In the nystagmogram there were varied rhythmic wave-forms with 1) oscillations of high frequency; 2) slow arrhythmic movements; 3) deviation tendencies with a fast nystagmus component. In...

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  • [Clinical evaluation of N-acetylaspartylglutamic acid eyedrops in subacute and chronic atopic conjunctivitis].

    abstract::Patients with subacute and chronic atopic conjunctivitis who were treated for at least one year with topically applied 2% sodium cromoglycate 4 times daily were switched to N.A.A.G.A. 6% eye drops for 2 months. A statistically significant gain in treatment effect as assessed objectively (+12.25%) and subjectively (+25...

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    authors: van Bijsterveld OP,Aalders-Deenstra V

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  • [Lysosomal storage diseases - update and new therapeutic options].

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  • [Surgical treatment of senile entropion and ectropion of the lower lid (author's transl)].

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  • [The modern body image as ethical device for biomedical enhancement].

    abstract::Ovid's "De medicamine faciei feminae" contains the astonishing sentence "Culta placent - all that is artificial is beautiful". In his "Éloge du maquillage" Baudelaire, buidling on Ovid's argument, states that first culture as picture and construction of beauty brings forth the truth of Nature and claims that cosmetics...

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    doi:10.1055/s-0032-1328108

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  • [Refraction after cataract surgery with posterior chamber lenses].

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  • [Clinical use of a simplified suction-irrigation system for extracapsular cataract extraction].

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  • [Histological characterization and classification of surgically excised choroid neovascular membranes].

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  • [Bilateral vascular papillitis following ergotamin medication (author's transl)].

    abstract::A 36-years aged woman suffering from migraine used Ergosanol special-suppositories. An edema of the retina with star figure appeared in both eyes with only a few months distance. After putting away that drug visual acuity restituted completely in spite of a partial neuritic atrophy of the optic nerve in the first suff...

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    authors: Wollensak J,Grajewski O

    更新日期:1978-11-01 00:00:00

  • [Hirschberg erred here: the correct angle factor is 12 degrees pro mm corneal reflex decentration. Geometric optical analysis of various methods in strabismometry].

    abstract:BACKGROUND:The use of prisms and cover is the established clinical method to measure eye alignment, the accuracy of which may reach 0.5 degree (1 cm/m). By contrast, there are contradictory recommendations in the literature regarding the measurement with corneal reflections. The purpose of the study was to present a sy...

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