[Abnormal head turn in a patient with Brown's syndrome]. / Ungewöhnliche Kopfzwangshaltung bei Brown-Syndrom.

BACKGROUND: We report on an eight-year-old boy, who was presented in our clinic because of head turn. The cause of the tortecollis (ocular or general) in this case was and still cannot be explained. Only by applying extensive prism adaptation tests it was possible to prove the ocular character of the head turn. CASE REPORT: An eight-year-old boy with Brown's syndrome was referred to us because of a head tilt to the left side. Six months previously surgery on the M. obl. superior of the right eye was performed in another clinic. No improvement of the head tilt could be observed after the operation. In addition, an exotropia became decompensated. Under a 3-day occlusion of one eye, no change of the head turn and the squint could be measured. No other cause of the head turn could be found by an orthopaedist and a paediatrist. Under a prism of 20 cm/m basis in and 10 cm/m basis against the positive vertical deviation, the head tilt decreased, so that we decided to do a second surgery. The head tilting had not resumed at one year after the surgery. CONCLUSIONS: Although the initial diagnostic findings ruled out an ocular cause, it was possible to lessen the head tilting with the aid of the prism adaptation test. This case study emphasises the usefulness of a prism adaptation test of several days duration in order to validate an ocular cause of head turn and to determine an adequate indication for surgery.

[Choroidal effusion syndrome after embolization of an indirect cavernous sinus fistula via the superior ophthalmic vein]. / Chorioidales Effusionssyndrom nach Embolisation einer indirekten Sinus-cavernosus-Fistel über die V. ophthalmica superior.

Embolization of a cavernous sinus fistula (SCF) via the superior ophthalmic vein (SOV) was reported to be an almost uncomplicated procedure, even after ligature of the vein at the end of the procedure. We report about a complication of this therapy. A 58-year-old female had a successful embolization of a right indirect cavernous sinus fistula via the SOV. At the end of the operation the SOV was ligated because of the danger of bleeding. Directly after surgery she experienced general worsening of the right eye with signs of venous congestion and marked effusion syndrome. The patient underwent total heparinization to achieve an opening of venous collaterals. Under local therapy with atropine 1% eye drops a decrease of the intraocular pressure was observed. The effusion syndrome was completely resolved within 1 month. If embolization of a cavernous sinus fistula is performed via the SOV, the ligature of the vein at the end of the procedure leads to thrombosis, which can reduce the venous stream from the eye and orbit. A secondary effusion syndrome with ocular hypertension because of a ciliolenticular block situation is possible and requires appropriate therapy. It is not possible to assess the capacity and time of opening of the venous collateral system before surgery. Therefore a transient outflow disturbance should be considered.

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

AIM: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. METHODS: The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. Mutation specific assays were used for segregation analysis and screening for controls. Eight patients from five families and their relatives were diagnosed with autosomal dominant retinitis pigmentosa (adRP) by means of clinical evaluation. RESULTS: Mutation screening identified five different rhodopsin mutations including three novel mutations: Ser176Phe, Arg314fs16, and Val20Gly and two missense mutations, Pro215Leu and Thr289Pro, that were only reported once in a mutation report. Electrophysiological and psychophysical testings provide evidence of an impaired rod system with additionally affected cone system in subjects from each genotype group. Visual function tended to be less affected in subjects with the Arg314fs16 and Val20Gly mutations than in the Ser176Phe phenotype. In contrast, Pro215Leu and Thr289Pro mutations caused a remarkably severe phenotype. CONCLUSION: The ophthalmic findings support a correlation between disease expression and structural alteration: (1) extracellular/intradiscal Val20Gly and cytoplasmic Arg314fs16 mutation-mild adRP phenotype; (2) Ser176Phe mutation-"mostly type 1" disease; (3) predicted alteration of transmembrane domains TM V and TM VII induced by Pro215Leu and Thr289Pro-severe phenotype. However, variation of phenotype expression in identical genotypes may still be a typical feature of RHO mutations.

[A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene]. / Ein Fall von Leberscher Optikusneuropathie (LHON) mit einer neuen Punktmutation im Cytochrom-b-Gen.

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is associated with mutations in the mitochondrial DNA (mtDNA). We report the clinical and molecular genetic findings of a patient who does not carry any of the common LHON mutations. METHODS: Clinical data were collected for the affected patient and two unaffected maternal family members. Complete sequence analysis of the mtDNA protein coding region was performed in the affected patient. RESULTS: Clinical examination of the affected patient showed typical features of LHON. A nucleotide exchange was detected at np14894 replacing an evolutionarily conserved phenylalanine by a leucine in the cytochrome b gene. The mutation was also present in two unaffected maternal family members, but absent in 60 other LHON lineages and 175 unrelated controls. CONCLUSIONS: Cytochrome b plays an important role in the electron transport chain of mitochondrial oxidative phosphorylation, and some mutations in the gene encoding cytochrome b have been associated with LHON. Our results may imply that the novel mutation at np14894 is responsible for LHON in this family.

[Sudden onset diplopia]. / Akute Diplopie.

Sudden onset diplopia may occur secondary to something as simple as uncorrected refractive error or as complicated as brainstem disorders in conjunction with other symptoms. Therefore, all complaints of diplopia must be a cause for concern. Ophthalmologists have to determine if diplopia is the first sign of a systemic or neurological disorder, which needs to be referred to a specialist or can be managed by the practitioner. In this paper the importance of the case history, primary diagnostic options, the indications for supplementary testing with computed tomography (CT) or magnetic resonance imaging (MRI) as well as treatment options when a patient complains of sudden onset diplopia are discussed.

[Acute right proptosis due to spontaneous orbital hemorrhage]. / Einseitiger Exophthalmus mit Orbitaeinblutung.

A 46-year-old woman presented with a sudden onset of non-traumatic periorbital hemorrhage, painless proptosis, conjunctival chemosis and injection as well as motility restriction of the right eye with double vision. Magnetic resonance imaging (MRI) revealed an extraconal mass in the medial orbit with lateral displacement of the medial rectus muscle and the eyeball without optic nerve involvement. A biopsy led to the diagnosis of non-specific inflammation. This case shows that sudden periorbital hemorrhages can be a sign for idiopathic orbital inflammation.

[What can blind patients see in daily life with the subretinal Alpha IMS implant? Current overview from the clinical trial in Tübingen]. / Was können blinde Patienten mit dem subretinalen Alpha-IMS-Implantat im Alltag sehen? Aktuelle Übersicht aus der Tübinger klinischen Studie.

The subretinal visual implant is a scientific research approach to restore partial vision in end-stage hereditary retinal diseases by replacing the function of the degenerated photoreceptors by microelectronic chips. In a clinical trial in Tübingen these implants were tested on voluntary blind patients. By using the implants in daily living the patients reported valuable visual information. The subretinal microchip mediates subjectively useful visual information in near as well as in distant vision.

[Orbital exenteration. Algorithm for therapy and rehabilitation]. / Orbitale Exenteration. Therapiealgorithmus und Rehabilitation.

Various procedures are available for orbital exenteration, mostly for neoplastic disorders, as well as for reconstructive surgery. Within the context of postoperative care prosthetic rehabilitation plays an important role. The specific form of planned epithetic replacement must already be considered in the design of the surgical procedure.

[Bilateral tumors of the eyebrows]. / Bilaterale Augenbrauentumoren.

We report about a 5-year-old boy who presented in our clinic with bilateral, slowly progressive solid tumors of the eyebrows. Histological examination of the excised tumors revealed the typical diversified picture of pilomatrixoma with basophilic and shadow cells. The bilateral or multiple manifestation of pilomatrixoma is uncommon and can be associated with myotonic dystrophy, sarcoidosis or Gardner's syndrome.

[Ocular neuromyotonia after radiation therapy]. / Okuläre Neuromyotonie nach Strahlentherapie.

Ocular neuromyotonia is a rare disease that is diagnosed mainly in patients treated with radiation. All such patients described in the literature presented with temporary diplopic images as a common symptom. In our case, the patient described an abducens paresis of the right eye combined with a sporadic exotropia half a year after radiation treatment of an epipharynx carcinoma. An adduction deficit on the right side could be triggered by holding the gaze to the right over a longer period of time, leading to exotropia in the primary position and gaze to the left. Symptoms were reduced with carbamazepine.

[Arthrogryposis multiplex congenita and retinitis pigmentosa]. / Arthrogryposis multiplex congenita und Retinitis pigmentosa.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a heterogeneous pattern of symptoms consisting of clinically different types. AMC is a non-progressive condition, which is characterized by congenital contracture of several joints in different body areas and may also occur as a manifestation of other syndromes. In such syndromes retinopathy as an ophthalmological manifestation of AMC has been described in the literature in only two patients. CASE REPORT: A 12-year-old girl with AMC presented with progressive visual loss since 1 year. Visual acuity was 0.5 in the right and 0.8 in the left eye. Visual fields were concentrically constricted. Funduscopy revealed an atrophic retinal pigment epithelium of the whole fundus with vital optic discs. In the scotopic electroretinogram (ERG) amplitudes were dramatically decreased or absent and cone signals were delayed. The multifocal ERG (mfERG) presented pathologically reduced amplitudes in the macular region as well as in the periphery. Examinations 5 and 8 years later revealed a reduction of visual acuity to 0.05 in the right and to 0.1 in the left eye, in addition the results of perimetry and of the Ganzfeld-ERG had deceased and the mfERG was no longer measurable. CONCLUSION: This young female demonstrated an AMC in combination with retinitis pigmentosa, but other disease manifestations or cerebral retardation could not be found. We present here an unusual case of what seems to be a new athrogryposis syndrome.

Extraocular surgery for implantation of an active subretinal visual prosthesis with external connections: feasibility and outcome in seven patients.

BACKGROUND: Due to low energy levels in microphotodiode-based subretinal visual prostheses, an external power supply is mandatory. We report on the surgical feasibility and the functional outcome of the extraocular part of an approach to connect a subretinal prosthesis to an extracorporeal connector in the retro-auricular space via a trans-scleral, transchoroidal cable. METHODS: Seven volunteers with retinitis pigmentosa received an active subretinal implant; energy was supplied by gold wires on a trans-sclerally, transchoroidally implanted polyimide foil leading to the lateral orbital rim where it was fixated and connected to a silicone cable. The cable was implanted subperiostally beneath the temporal muscle using a trocar to the retro-auricular space where it penetrated the skin for connection to a stimulator. To avoid subretinal movement of the implant, three tension relief points have been introduced. RESULTS: All implantations were performed as planned without complications, and no serious adverse events occurred in the postoperative period. Fixation of the implants was stable throughout the entire study duration of 4 weeks; permanent skin penetration proved to be uncomplicated. Motility was minimally restricted in downgaze and ab-/adduction. Explantation was uneventful. CONCLUSION: The above-described procedure provides a method for stable fixation of a subretinal device with a trans-scleral, transchoroidal cable connection to an extracorporeal connector.

Visual field defects in acute optic neuritis--distribution of different types of defect pattern, assessed with threshold-related supraliminal perimetry, ensuring high spatial resolution.

PURPOSE: To assess the pattern and the local spatial frequency distribution of visual field defects (VFDs) in eyes with clinically diagnosed optic neuritis (ON) and their currently unaffected fellow eyes, using threshold-related, slightly supraliminal perimetry, ensuring high spatial resolution. METHODS: Records obtained with the Tübingen Automatic perimeter (TAP, Oculus Inc., Dudenhofen, Germany) and the Octopus 101 perimeter (Haag-Streit Inc, Koeniz, Switzerland), using a standardized grid of 191 static targets within the central 30 degrees visual field, were analysed retrospectively. VFDs were assigned to 15 classes. RESULTS: Visual fields (VF) from 99 patients (26 male and 73 female subjects, aged from 18 to 51 years) with clinically diagnosed, acute ON (52 right eyes, 48 left eyes affected, one bilateral involvement) were evaluated. Central scotomas were the most common finding in associated eyes, covering 41% of all VFDs in affected eyes. Nerve fibre bundle defects were found in 29% and paracentral scotomas in 14% of all VFDs. Fellow eyes were perimetrically normal in 65% of the clinically monocular ONs. Nerve fibre bundle defects were found in 21% and diffuse scotomas in 9% of the fellow eyes. CONCLUSIONS: Central scotomas and retinal nerve fibre bundle defects are the most common VFDs in acute ON. Small central and paracentral scotomas that most probably would have been missed by automated thresholding perimetry with its relatively coarse grid could be detected by threshold-related, slightly supraliminal strategy. Of the fellow eyes in clinically apparent monocular optic neuritis, 35% present with visual field defects.

[Genetic diseases of the eye]. / Genetisch bedingte Erkrankungen des Auges.

The eye has always provided a diagnostic window for hereditary and acquired systemic diseases. Of the more than 6,000 known hereditary diseases, many are associated with changes of the visual system. Some are isolated genetic diseases of the eye, others are associated with additional ocular or systemic disorders (syndromes). In recent years, the recognition of genetic diseases as a leading cause of severe visual impairment in adults and in children has led to efforts to determine the underlying defects as well as to develop diagnostic and therapeutic molecular genetic tools. Also, education of ophthalmologists about these diseases will foster the prevention of and therapeutic approaches for genetic blindness. In this article, current knowledge on the clinical manifestations, aetiology and management of genetic diseases of the eye has been summarised.

Detection and elimination of contaminations interfering with the determination of zinc in plasma.

We undertook detailed examination of the practices and procedures involved in the analysis of serum for zinc by atomic absorption spectrophotometry, to identify possible sources of zinc contamination. Some degree of contamination was found in almost all steps of the procedure. These findings are presented and alternative materials and procedures are described that significantly decrease or eliminate contamination from extraneous zinc. The plasma of 76 normal adults was analyzed by the revised procedure, and a lower mean value was obtained than has been previously reported.