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

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. Due to their progressive nature there is considerable morbidity and mortality. Thus, an early treatment to maintain major systemic functions is of utmost importance. While so far only symptomatic therapies are in use, the newly available enzyme replacement therapies offer a real causal approach for selected storage diseases. Many of these disorders are characterised by pathognomonic eye findings. Therefore, the ophthalmological examination provides the opportunity for an early and non-invasive diagnosis and a chance to initiate early treatment. This review is intended to give a survey of the most common lysosomal storage diseases, particularly with regard to ophthalmological changes as well as illustrate new therapeutic options.

journal_name

Klin Monbl Augenheilkd

authors

Schöpfer K,Miebach E,Beck M,Pitz S

doi

10.1055/s-0028-1109958

subject

Has Abstract

pub_date

2011-02-01 00:00:00

pages

144-60

issue

2

eissn

0023-2165

issn

1439-3999

journal_volume

228

pub_type

杂志文章,评审
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  • [Keratoplasty in private practice].

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    doi:10.1055/s-2008-1046177

    authors: Witmer R

    更新日期:1990-05-01 00:00:00

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    doi:

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    更新日期:1979-08-01 00:00:00

  • [Experimental studies of the tensile strength of laser adhesions].

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    doi:10.1055/s-2008-1054567

    authors: Misita V

    更新日期:1984-07-01 00:00:00

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    doi:10.1055/s-2008-1054449

    authors: Welge-Lüssen L,Welt R,Remler B,Demmer HJ

    更新日期:1984-03-01 00:00:00

  • [Recurrent fibrous histiocytoma at the corneoscleral limbus].

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    pub_type: 杂志文章

    doi:10.1055/s-2008-1027125

    authors: Maier PC,Auw-Hädrich C,Reinhard T

    更新日期:2008-01-01 00:00:00

  • [A new soft contact lens of 2-component silicone].

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    pub_type: 杂志文章

    doi:10.1055/s-2008-1046016

    authors: Dreifus M

    更新日期:1991-05-01 00:00:00

  • [Bilateral neuroretinitis with zoster infection].

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    doi:10.1055/s-2008-1034771

    authors: Nicaeus T,Wilhelm H

    更新日期:1999-03-01 00:00:00

  • [Treatment of retinal detachment with macular hole: scleral buckling with an absorbable fibrin sponge (author's transl)].

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    pub_type: 杂志文章

    doi:

    authors: Wollensak J,Engels T

    更新日期:1977-08-01 00:00:00

  • ["Masquerade foreign body" of the conjunctiva].

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    doi:10.1055/s-2003-37582

    authors: Szurman P,Pressler H,Kolb M,Rohrbach JM

    更新日期:2003-01-01 00:00:00

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    doi:10.1055/s-0034-1368376

    authors: Unterlauft JD,Wiedemann P,Meier P

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    abstract:BACKGROUND:Assessment of visual acuity depends on the optotypes used for measurement. The ability to recognize different optotypes differs even if their critical details appear under the same visual angle. Since optotypes are evaluated on individuals with good visual acuity and without eye disorders, differences in the...

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    authors: Becker R,Gräf M

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    doi:

    authors: Schulze DP,Freese R,Sauerwald R

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  • [Objective vernier acuity testing in adults, children and infants. Possibilities and limits of a new method].

    abstract:BACKGROUND:Recently, a method of objective Vernier acuity testing using a modified Catford drum was presented. A tight correlation between the objective Vernier acuity and the Snellen acuity was reported (Hopkisson et al. 1991). PATIENTS AND METHODS:In 41 cooperative patients with strabismic amblyopia and 20 normal su...

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    更新日期:1994-02-01 00:00:00

  • [Functional Results One Year after Implantation of a Bitoric, Trifocal Intraocular Lens].

    abstract:PURPOSE:An evaluation of the visual and refractive results was undertaken one year after implantation of a trifocal diffractive toric intraocular lens (IOL) during cataract surgery. METHODS:In a prospective study patients with a calculated postoperative corneal astigmatism of ≥ 0.75 D received a diffractive trifocal t...

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  • [The frequency of various forms of senile cataract (author's transl)].

    abstract::On classifying 1000 senile cataracts it was found that in pure cataract forms - starting from the cortex - the typical grey senile cataract (cataracta supranuclearis) mostly occurs with a clear nucleus. The dense permeability cataract (cataracta subcapsularis) most frequently shows a dense grey clouding of the nucleus...

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    更新日期:1976-08-01 00:00:00

  • [Tear Film Osmolarity in Normal Individuals: Comparison of Two Osmometers].

    abstract:INTENTION:The hyperosmolarity of the tear film is an important clinical sign of dry eye disease. It is the most important diagnostic parameter. In addition to the TearLab osmometer (TearLab Corp, San Diego, CA), which has been available for several years, the I-Pen osmometer (I-MED Pharma Inc, Dollard-des-Ormeaux, Queb...

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    authors: König S,Priglinger S,Schaumberger M,Messmer EM

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  • [Evaluation of the image quality of bi- and multifocal intraocular lenses with a new optical system].

    abstract::By means of a new optical device developed by Reiner, an "optical implantation" of 6 different bi- and multifocal intraocular lenses (MIOLs) was performed in 20 young healthy subjects, and results were compared with those of a monofocal reference IOL. The following parameters were investigated: distance and near visua...

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    authors: Eisenmann D,Jacobi KW,Reiner J

    更新日期:1992-12-01 00:00:00

  • [Suitability of resorbable sutures in the treatment of corneal wounds].

    abstract::In a series of cataract operations with a corneal incision PDS 10-0 absorbable sutures were tested. In contrast to deeper PDS sutures, such as are used in corneoscleral incisions, the corneal sutures opened as early as between 13 and 30 days postoperatively in 5 out of 7 cases. Postoperative irritation was more severe...

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    authors: Faulborn J,Gülececk O

    更新日期:1983-12-01 00:00:00

  • [Trabeculotomy and trabeculectomy (author's transl)].

    abstract::After recalling the aim of trabeculotomy and trabeculectomy, the author mentions similar techniques, which were in use before the microsurgical era. Some details of the two techniques, performed at Zurich University Eye Clinic exclusively under the operating microscope, are presented, as well as their indications and ...

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    doi:10.1055/s-2008-1057206

    authors: Martenet AC

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  • [The value of preoperative calculation of intraocular lenses].

    abstract::In 82 cataract patients the power of the pseudophakos to be implanted was determined. Axial length and anterior chamber depth were measured by ultrasound. The results of keratometry and the echographic data were used for lens power calculation. For the accuracy of prediction the estimated post-operative anterior chamb...

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    doi:10.1055/s-2008-1055264

    authors: Hauff W

    更新日期:1982-11-01 00:00:00

  • [Millenniums update on posterior capsule opacification (PCO) scores, centration, biocompatibility and fixation of foldable intraocular lenses (IOL) - an analysis of 1,221 pseudophakic post mortem globes].

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    更新日期:2001-10-01 00:00:00

  • [Penetrating Limbokeratoplasty for Gelatinous Corneal Dystrophy].

    abstract:BACKGROUND:Gelatinous corneal dystrophy is a very rare disease in Europe and North America. Patients suffer from pain, photophobia and loss of vision, usually before the age of 20. Transplantation of limbal stem cells was proposed due to the high rate of recurrence after conventional penetrating keratoplasty. We presen...

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    doi:10.1055/s-0043-109692

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  • [Genodermatosis with changes in eyes not previously described (author's transl)].

    abstract::Report on a patient with several symptoms which had not previously occurred together. The main symptom is palmoplantar keratosis; further alterations were kypho-skoliosis, brachytelephalangia of the thumbs, and in the eyes, keratoconus, a cataract and electroretinographic alterations. ...

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    pub_type: 杂志文章

    doi:10.1055/s-2008-1057732

    authors: Richard G,Wreesmann P

    更新日期:1980-12-01 00:00:00

  • [Tear film diagnosis in contact lens wearers].

    abstract::Contact lenses have an intimate relationship with the precorneal tear film and it is important to attempt to prognosticate the likelihood of successful contact lens wear by evaluating, both quantitative and qualitative aspects of the precorneal tear film. Aspects of history diagnostic methods and general aspects which...

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    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1046269

    authors: Lemp MA,Gold JB

    更新日期:1990-09-01 00:00:00

  • [Corneal endothelial damage in congenital and juvenile glaucoma].

    abstract::Corneal changes are typical for infantile glaucoma. In newborns, Descemet's membrane and the stroma are still soft, and distend when intraocular pressure rises. Cell counts were performed under the reflecting microscope to determine whether the endothelium is affected when corneal diameter increases and changes occur ...

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    pub_type: 杂志文章

    doi:10.1055/s-2008-1050052

    authors: Wenzel M,Krippendorff U,Hunold W,Reim M

    更新日期:1989-12-01 00:00:00

  • [Botulinum Toxin - New Developments in Ophthalmology].

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    doi:10.1055/s-0042-122339

    authors: Wabbels B

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