[NF2: ocular, neural and genetic manifestations].

Abstract:

:Neurofibromatosis 2 is an autosomal-dominant disease, which is characterized by vestibular schwannomas, cataract, retinal hamartomas as well as tumors of the peripheral and central nerve system, demonstrating a variety of expression. The ophthalmologist plays an important role in making the diagnosis, as several ocular manifestations may be shown during childhood, before tumors of the central nerve system become symptomatic. An early diagnosis of NF 2 may prevent deafness by early surgical intervention. Due to primary and secondary reasons such as age-related processes, different sensations like hearing or vision may be compromised. Neuropathy may lead to vestibular disturbances and loss of muscle control. Therapeutic options include cataract surgery, implantation of cochlear or brainstem implants as well as conservative therapy of the ocular surface in paresis of the VIIth cranial nerve or learning to read from the lips. The human NF2 gene was cloned from chromosome 22 in 1993. The major part of the genetic alterations described so far are point mutations as well as deletions or insertions in or around the exons. Geno-phenotype correlations allow some predictions of the course of the disease to be made.

journal_name

Klin Monbl Augenheilkd

authors

Feucht M,Mautner VF,Richard G

doi

10.1055/s-2005-857956

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

312-6

issue

4

eissn

0023-2165

issn

1439-3999

journal_volume

222

pub_type

杂志文章,评审
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    authors: Wollensak J,Zeisberg B,Pham Duy T

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  • [Secondary ocular syphilis with chorioretinitis of the posterior pole - a case report].

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

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    pub_type: 临床试验,杂志文章

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  • [Effect of pupil size on longitudinal focal distribution after photorefractive keratectomy ].

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    authors: Cremer-Bartels G

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    doi:10.1055/s-2008-1054369

    authors: Miettinen P,Aine E,Partanen M

    更新日期:1985-11-01 00:00:00

  • [Benefits of ambulatory surgery in cataract surgery].

    abstract::We monitored 300 patients who had undergone ambulatory cataract operations. Patients are more and more preferring this type of surgery, which allows them to go home immediately after the operation. We compare ambulatory ECCE and phacoemulsification operations and their complications, advantages and disadvantages. We s...

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    authors: Bovet J,Baumgartner JM

    更新日期:1994-05-01 00:00:00

  • [Endophthalmitis after intra-oral block of the infraorbital nerve].

    abstract:BACKGROUND:Most penetrating needle puncture injuries occur in retro- or peribulbar anesthesia. Hereby only a small percentage of patients develop endophthalmitis. Ocular penetration after enoral infraorbital nerve block has not yet been reported in literature. HISTORY AND FINDINGS:In June 1995 a 74-year-old man presen...

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    authors: Weinand FS,Pavlovic S,Dick B

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  • [Keratectomy and cataract extraction in Terrien disease].

    abstract::In a 36-year-old patient with bilateral Terrien's disease, surgery to improve vision in the right eye, which was in Stage V, was no longer possible. In Stage III a thoroughgoing keratectomy parallel to the limbus was performed, in combination with cataract extraction and coreplasty. Even though Descemet's membrane was...

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    doi:10.1055/s-2008-1054338

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    更新日期:1985-11-01 00:00:00

  • [Comparative results of keratometry with three different keratometers after LASIK].

    abstract:BACKGROUND:Postoperative hyperopia is a frequent result of cataract surgery in eyes after previous myopic kerato-refractive surgery. One reason for the underestimation of intraocular lens (IOL) power is the wrong corneal refractive power measurement obtained by keratometers and corneal topography systems after LASIK. T...

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    abstract::Topical administration of Isoproterenol reduces the intraocular pressure in glaucomatous eyes, but produces systemic side-effects (tachycardia arterial hypotension) that make its clinical use unadvisable. Such side-effects are significant when the concentration of Isoproterenol is 4 and 5%. Pre-treatment of the contra...

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    pub_type: 杂志文章

    doi:

    authors: Bucci MG,Pescosolido N

    更新日期:1977-04-01 00:00:00

  • [Corneal manifestations in Vitamin A deficiency].

    abstract:BACKGROUND:Vitamin A, the fat soluble vitamin, must be supplied orally before resorption in the mucosa of the small intestine and storage in the liver. Vitamin A deficiency can cause alterations in the anterior segment of the eye, from Bitot spots, which are reversible, to irreversible keratomalacia. PATIENTS AND METH...

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    doi:10.1055/s-2008-1045496

    authors: Sadowski B,Rohrbach JM,Steuhl KP,Weidle EG,Castrillón-Oberndorfer WL

    更新日期:1994-08-01 00:00:00

  • [The clinical picture, fluorescence angiography and histologie of a ringmelanoma of the iris (author's transl)].

    abstract::Report on a rare case of an iris-ringmelanoma. Arising from the iris base the primary tumor spread in a continuous line along the anterior chamber angle and a shedding of tumor cells in other places of the iris surface could be stated as well. A unilateral dark spotted colouring of the iris with a secondary glaucoma w...

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    pub_type: 杂志文章

    doi:

    authors: Demeler U,von Domarus D

    更新日期:1976-03-01 00:00:00

  • [Experimental findings with a fibrin tissue adhesive in conjunctival and skleral surgery in a rabbit model (author's transl)].

    abstract::The authors investigated the wound closure of conjunctival wounds with fibrin adhesive as compared to a suture technique in rabbits. Similarly, the fixation of a transplant of lyophilized dura mater on the sclera by fibrin adhesive was also compared with a suture technique. Both clinically and histologically, there we...

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    authors: Härting F,Mellin KB

    更新日期:1981-07-01 00:00:00

  • [Reis-Bücklers corneal dystrophy].

    abstract::In the literature two types of anterior corneal dystrophy are referred to as Reis-Bücklers' dystrophy. These are the one originally described by Bücklers in 1949 and known by us as the geographical form, and a honeycomb form. On the basis of electron-microscopic findings the geographical form is considered by some aut...

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    doi:10.1055/s-2008-1050600

    authors: Winkelman JE,Wittebol-Post D,Delleman JW

    更新日期:1986-02-01 00:00:00

  • [Ophthalmic-pharmacological complications (author's transl)].

    abstract::The action of some drugs on the eye may lead to the occurrence of unforeseen ocular and extraocular reactions. Vincaleukoblastin (Velbe) provokes serious corneal lesions with a healing time of two weeks and a half. The local application of Neo-Synephrine eye drops (10%) and Mydrial-Atropine ointment may lead in the ca...

    journal_title:Klinische Monatsblatter fur Augenheilkunde

    pub_type: 杂志文章

    doi:

    authors: Lisch K

    更新日期:1976-07-01 00:00:00

  • Contact Lenses in the Management of Corneal Dystrophies.

    abstract::Among the group of diseases comprising corneal dystrophies, there are a number for which contact lenses may be considered. For example, soft contact lenses may be beneficial in the management of recurrent corneal erosions and advanced bullous keratopathy and may lead to disease attenuation in some conditions. They als...

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    pub_type: 杂志文章,评审

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  • Cilioretinal artery occlusion combined with central retinal vein occlusion - a report of two cases and review of the literature.

    abstract:BACKGROUND:We describe the clinical findings and course of cilioretinal artery occlusion (CAO) combined with central retinal vein occlusion (CRVO) in two patients and present a review of the relevant literature. HISTORY AND SIGNS:Case 1: An otherwise healthy 24-year-old woman presented to the emergency unit with a pai...

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    pub_type: 杂志文章,评审

    doi:10.1055/s-0029-1245291

    authors: Theoulakis PE,Livieratou A,Petropoulos IK,Lepidas J,Brinkmann CK,Katsimpris JM

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  • [Better prognosis for amblyopics by means of full prismatic correction after monocular treatment (author's transl)].

    abstract::Binocular training with full prismatic correction after the monocular therapy by occlusion brings a further improvement of the visual acuity as well as shown in a study of 29% (138 cases) of 469 selected cases with binocular problems and 43% (260 cases) of about 600 unselected cases of squint actually in treatment in ...

    journal_title:Klinische Monatsblatter fur Augenheilkunde

    pub_type: 杂志文章

    doi:

    authors: Pestalozzi D,Schwarzenbach A

    更新日期:1979-09-01 00:00:00

  • [Ultrasound microscopy findings of artificial lenses].

    abstract::Acoustic microscopy permits a native, nondestructive and artefact-free analysis of the surface of intraocular lenses with regard to manufacturing defects, biologic cellular and membranaceous layers, and signs of degradation. Furthermore, it enables structures below the surface to be evaluated, so that inclusions, pore...

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    pub_type: 杂志文章

    doi:10.1055/s-2008-1046419

    authors: Rochels R,Lieb W,Ganz S,Hoppe M

    更新日期:1989-08-01 00:00:00

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    pub_type: 杂志文章

    doi:

    authors: Huismans H

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