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 Augenheilkdjournal_title
Klinische Monatsblatter fur Augenheilkundeauthors
Mühlfriedel R,Tanimoto N,Seeliger MWdoi
10.1055/s-0034-1368180subject
Has Abstractpub_date
2014-03-01 00:00:00pages
232-40issue
3eissn
0023-2165issn
1439-3999journal_volume
231pub_type
杂志文章,评审abstract::In two patients (a married couple) the oral intake of 5 mg diazepam (Valium) per day (sometimes even more) over several years led to a homogeneous brown opacification of the lens under the anterior capsule over an area corresponding to the mean pupillary diameter. The deposit is obviously irreversible. ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1051023
更新日期:1985-09-01 00:00:00
abstract::In this contribution the authors present the results of treatment by pars plana vitrectomy in a consecutive series of 200 patients with proliferative retinopathy. Anatomical success was achieved in 82% of the cases of simple vitreous hemorrhages, in 63% and 67% respectively of the cases of traction detachment with or ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050630
更新日期:1986-04-01 00:00:00
abstract::From 20 cases of arachnitis optico-chiasmatica (a. o.) the symptoms of this relatively rare but pathologico-anatomically proved disuse of the brain base involving the optic nerves are described. In this description newer methods of investigation are mentioned which allow a differentiation of the clinical picture of o....
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1977-12-01 00:00:00
abstract::A 46 year old AIDS-patient, who had developed CMV-retinitis was treated with the virostatic drug dihydroxypropoxymethylguanine (DHPG, Ganciclovir) over a period of 16 months until he died due to a pneumonia. After the DHPG-treatment was initiated the retinitis improved markedly, however there still was a very slow pro...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046305
更新日期:1990-11-01 00:00:00
abstract::We report on ten patients of four generations with autosomal dominant vitreoretinal dystrophy with different manifestation. The ophthalmological findings are retinal detachment, retinal holes, retinoschisis, lattice and snowflake degeneration, vitreoretinal adhesions, chorioretinal atrophy and peripheral pigment epith...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1045954
更新日期:1991-03-01 00:00:00
abstract:BACKGROUND:Data from real-life studies on neovascular AMD (nvAMD) generally fall significantly behind respective data from interventional prospective trials. This can be attributed at least partially to differences in patient cohorts concerning both stages of AMD (including consecutive scarring or atrophy), as well as ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0041-107672
更新日期:2016-08-01 00:00:00
abstract::Primary therapeutic measures in 94 eyes suffering from acute angle-closure glaucoma were assessed in a retrospective study. Sixty-eight eyes were treated with acetazolamide, timolol, and pilocarpine. The remaining 26 eyes were treated with acetazolamide and timolol only. The therapy without pilocarpine proved to be si...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050322
更新日期:1987-01-01 00:00:00
abstract:BACKGROUND:Malignant melanoma of the choroid is the most common ocular primary malignancy, but is still a rare tumour. The occurrence of bilateral uveal melanoma is exceedingly rare. The probability of any one individual developing bilateral melanoma is estimated to be 1 to 50 million. MATERIALS AND METHODS:A retrospe...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2007-963519
更新日期:2007-10-01 00:00:00
abstract:BACKGROUND:A measurement of ametropia with a table-top mounted autorefractor can be difficult or impossible on children--especially when the children are very young or handicapped. A hand-held autorefractor, however, may be successfully applied in some of these problematic cases. METHODS:Results of comparative measure...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035153
更新日期:1997-12-01 00:00:00
abstract::A report is given on the implantation of 500 Medallion lenses, most of which were implanted after intracapsular cataract operation (88%) and were kept under observation for between 3 and 88 months (average 22 months). In 1.2% a severe keratopathy resulted from an operation that was too traumatic, from decentration of ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1054737
更新日期:1983-02-01 00:00:00
abstract:UNLABELLED:In early stages choroidal peripapillary choroidal melanoma may be confused with a choroidal nevus or melanocytoma. CASE REPORT:A 41-year old female was diagnosed having a choroidal nevus in close proximity to the optic nerve head. Unfortunately the patient did not show up for annual review of this lesion. T...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2000-9576
更新日期:2000-12-01 00:00:00
abstract::Two tissue specimens obtained by trabeculectomy from infant eyes with different reactive changes in their chamber angles due to previous trabeculotomies are described and discussed. Both eyes had been operated on glaucoma for several times. In the first case, the trabeculotomy had resulted in the formation of laminar ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057503
更新日期:1980-04-01 00:00:00
abstract::36 malignant tumours of the eyelids (basaliomas, basal-cell carcinomas and squamous-cell carcinomas) have been treated by intrapalpebral injections of a 5% to 25% solution of urea as recommended by E.D. Danopoulos. 1.5 to 3.0 ml of the solutions were injected around the tumours twice per week. Six malignant tumours di...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1976-07-01 00:00:00
abstract:BACKGROUND:The aim of this study is to report the feasibility of one to two weeks delayed reconstruction after eyelid tumor excision. PATIENTS AND METHODS:A retrospective case-series study was designed. Fourteen consecutive outpatients referred to a tertiary referral eye center for eyelid tumor management were enrolle...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0031-1299208
更新日期:2012-04-01 00:00:00
abstract::A new type of eye speculum is described. It has the following advantages: it does not hamper the surgeon in his work, it has no projecting parts on which sutures may get caught, and it enables spreading of the eyelids to be controlled. ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1975-06-01 00:00:00
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 ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1975-07-01 00:00:00
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...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0043-121032
更新日期:2018-10-01 00:00:00
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...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057553
更新日期:1980-05-01 00:00:00
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...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1050733
更新日期:1986-06-01 00:00:00
abstract::Lysosomal storage diseases represent a group of about 50 genetic disorders. The deficiencies of lysosomal and non-lysosomal proteins cause an accumulation of compounds which are normally degraded within the lysosome. There are currently no therapeutic options to cure patients suffering from a lysosomal storage disease...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1109958
更新日期:2011-02-01 00:00:00
abstract::a) Entropion: When developing or discussing a surgical technique one should try to understand how senile entropion develops. On the basis of clinical observation we can develop a suitable surgical technique from our knowledge of atonic (never spastic) entropion. The technique is described and results discussed. b) Ect...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1057194
更新日期:1981-04-01 00:00:00
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...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-0032-1328108
更新日期:2013-01-01 00:00:00
abstract::In an attempt to determine the accuracy of ultrasound biometry, the spherical equivalent of the refraction obtained after ECCE and implantation of a posterior chamber IOL in 1663 patients was compared to the desired refraction determined prior to surgery. Follow up time was 21 months on the average. In only 7.4% of th...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1046055
更新日期:1991-08-01 00:00:00
abstract::This paper discusses the clinical application of a simplified irrigation-aspiration system for extracapsular cataract extraction. This simplified apparatus represents a reasonably-priced alternative to the existing expensive and complicated systems. When the surgeon has gained sufficient practice in the use of this me...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1984-12-01 00:00:00
abstract:PURPOSE:This study was undertaken in order to histologically characterize surgically-excised choroidal neovascular membranes and to correlate theses histologic findings with the fundus and fluorescein angiographic appearance. MATERIAL AND METHODS:Surgically-excised subfoveal choroidal neovascular membranes submitted i...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1035142
更新日期:1997-11-01 00:00:00
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...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:
更新日期:1978-11-01 00:00:00
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...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1034681
更新日期:1999-08-01 00:00:00
abstract:BACKGROUND:Most reports on transscleral suture fixation of posterior chamber lenses (PCL) do not mention the principal difficulty that the surgeon has no valid information which structures were perforated by the needle and where he happened to fix the PCL loops. To know this exactly is a "conditio sine qua non". Withou...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2008-1045599
更新日期:1993-04-01 00:00:00
abstract:BACKGROUND:Incomplete removal of the viscoelastic material during cataract surgery may lead to the early postoperative capsular block syndrome. In this retrospective case series, postoperative capsular bag distention after implantation of a foldable acrylic lens is reported and the sequelae are analyzed. PATIENTS AND ...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/s-2004-812876
更新日期:2004-05-01 00:00:00
abstract:BACKGROUND:Various procedures are available for the treatment of advanced glaucoma. We examined the efficacy and safety of fractionated cyclophotocoagulation (CPC) with up to ten laser spots for advanced primary open-angle glaucoma (POAG) and pseudoexfoliation (PEX) glaucoma treated with maximal topical therapy or eye-...
journal_title:Klinische Monatsblatter fur Augenheilkunde
pub_type: 杂志文章
doi:10.1055/a-1057-9699
更新日期:2020-02-03 00:00:00