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In diesem Kapitel werden die Grundlagen sowie die Varianten (Begleitschielen, paretisches Schielen) und Ursachen (Paresen des N. III, N. IV bzw. N. VI) des Strabismus besprochen.

Dieses Kapitel umfasst die physiologischen und pathologischen Aspekte rund um die Orbita. Neben den Traumata stehen auch maligne sowie benigne Tumore und die endokrine Orbitopathie im Fokus.

In autoimmune myasthenia gravis (MG), the identification of antibodies and characterization of serological subgroups is of great importance for diagnosis and management of the disease. Our aims were to study the frequency of antibodies against lipoprotein-related protein 4 (LRP4), agrin, and titin using the most recent techniques, and to characterize corresponding clinical features and autoimmune diseases (AID) in 100 MG-patients. The antibody frequencies in the 55 AChR-antibody positive patients were 7% LRP4, 5% agrin, 53% titin, and in the 45 AChR-antibody negative patients 2% MuSK, 2% LRP4, 2% agrin, and 27% titin. LRP4-MG presented late-onset age, mild symptoms, good therapeutic response, and no thymic changes. Agrin-MG showed early onset age, mild-to-severe symptoms, and moderate treatment response. The phenotype of titin-MG depended on AChR-antibodies: AChR-antibody negative patients presented with mostly mild limb muscle weakness, whereas AChR-antibody positive patients showed more frequently severe symptoms, including myasthenic crisis, bulbar predominance, and thymoma. Additional AID were detected in 32% of MG-patients, most frequently Hashimoto's thyroiditis (21%). Based on our data, we recommend the detection of LRP4-antibodies for at least AChR-antibody negative MG-patients and titin-antibodies for all MG-patients. We propose taking an accurate medical history for typical symptoms of Hashimoto's thyroiditis in MG-patients.

Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability, mild hypocalcemia, muscle fatigue, asplenia, and ichthyosis. Using targeted sequencing and whole-exome sequencing, we identified the c.910CT transition in a STIM1 allele (p.R304W) only in patients and not in their unaffected family members. STIM1 encodes stromal interaction molecule 1 protein (STIM1), which is a finely tuned endoplasmic reticulum Ca(2+) sensor. The effect of the mutation on the structure of STIM1 was investigated by molecular modeling, and its effect on function was explored by calcium imaging experiments. Results obtained from calcium imaging experiments using transfected cells together with fibroblasts from one patient are in agreement with impairment of calcium homeostasis. We show that the STIM1 p.R304W variant may affect the conformation of the inhibitory helix and unlock the inhibitory state of STIM1. The p.R304W mutation causes a gain of function effect associated with an increase in both resting Ca(2+) levels and store-operated calcium entry. Our study provides evidence that Stormorken syndrome may result from a single-gene defect, which is consistent with Mendelian-dominant inheritance.

It has been shown in some recently published papers that the intracranial pressure can be determined by dynamometric measurement of the outflow pressure of the central retinal vein (VOP). The knowledge gained by the basic experiments of Baurmann in 1925 has been forgotten by the ophthalmic community for many years. In this paper the basic phenomena of venous collapse are outlined which are fundamentally different from the biomechanics of the arterial collapse phenomenon observed by ophthalmodynamometry. A practical guideline is given for the dynamometric measurement of venous outflow pressure which equals the intracranial pressure. Performing dynamometry of the central retinal vein enables the ophthalmologist to determine intracranial pressure in a non-invasive way.

purpose To evaluate the intraorbital pressure in patients with Graves’ ophthalmopathy (GO) in relation to the intraocular pressure (IOP) and proptosis and to find out whether optic nerve compression is predictable.

The authors present a case with a presumed neurologic cause of late onset esotropia. The first symptom was sudden occurrence of esotropia at the age of 3 3/4 years. An accommodative esotropia could be ruled out after the prescription of glasses. The squint angle showed significant variations at distance and near fixation. Eight months after the first examination intense headache appeared. The neuroophthalmologic examination and organic findings were inconspicuous, except for smooth pursuit which showed high latency of the abducting eye on both sides. MRI was performed and showed a 2-cm mass in the upper dorsal vermis diagnosed as pilocyte astrocytoma grade 1. After neurosurgery, the esotropia showed no tendency towards reduction. Four months later, a Faden operation was performed on the internal recti of both eyes, resulting in micro-esotropia. Immediately after eye muscle surgery only the Bagolini-test was positive. Currently, the patient is able to recognize the rings 1-7 in the Titmus-test and the Lang I test. Esotropia with greater esodeviation at distance is described in adults with lesions of the dorsal vermis of the cerebellum. We postulate that the esotropia in our case was probably the first symptom of a cerebellar tumor.