[Retinoblastoma]. / Retinoblastom.

Retinoblastomas represent 6% of all malignant tumors in children under 5 years old, which untreated lead to blindness in the affected eye and death due to metastases. The main symptoms are leukocoria and strabismus, which if possible, always necessitate a clarification within 1 week for exclusion of a retinoblastoma. The most frequent differential diagnoses are Coats' disease and persistent fetal vasculature (PFV) as well as other intraocular tumors, in particular astrocytomas. Systemic chemotherapy, if necessary in combination with laser hyperthermia, local chemotherapy and brachytherapy are the most important methods for eye-preserving treatment. Advanced cases mostly necessitate enucleation.

[Primary meningioma of the optical nerve sheet in infancy as initial presentation of neurofibromatosis type 2]. / Primäres Meningeom des Nervus opticus im Säuglingsalter als Erstmanifestation einer Neurofibromatose Typ 2.

Intraorbital meningiomas are rare tumors, making up less than 4% of all intraorbital tumors. Intraorbital meningiomas of childhood are curiosities with only few documented cases. We present the case of an 8­month-old male infant, presenting with strabismus and nystagmus. Magnetic resonance imaging showed a long segment thickening of the optical nerve and an intraocular tumor. The tumor was suspicious for retinal dysplasia and enucleation of the eye was performed to exclude malignancy. Histological examination revealed a meningothelial meningioma (WHO grade I), extending along the optical nerve and into the eye accompanied by retinal dysplasia and epiretinal membranes. Meningiomas of childhood, retinal dysplasia, and epiretinal membranes are regularly associated with neurofibromatosis type 2. Subsequent genetic analysis led to the final diagnosis. This case documents a very unusual early beginning of a neurofibromatosis type 2.

[Adjuvant radiotherapy during anti-VEGF in neovascular age-related macular degeneration]. / Adjuvante Radiotherapie der neovaskulären altersabhängigen Makuladegeneration unter Anti-VEGF.

Single adjuvant radiotherapy during anti-VEGF therapy could be in certain indications an alternative to the gold standard of sole intravitreal anti-VEGF drug injection in neovascular age-related macular degeneration. First clinical trials showed efficacy due to reduction of anti-VEGF injection numbers by 100 kV collimated beam radiotherapy. After consideration and performance of adjuvant radiotherapy, results of the course should be centrally registered in order to carry out further analysis.

[Uveal and iridociliary melanomas in young patients : A retrospective analysis of 57 cases]. / Aderhaut- und Ziliarkörpermelanome bei jungen Patienten : Eine retrospektive Analyse von 57 Fällen.

BACKGROUND: Uveal melanomas (UM) are rare malignancies in young patients. It is unknown if UM in young patients significantly differs from those in older patients concerning tumor size and localization, metastasis and genetics. The aim of this study was to evaluate the clinical course and tumor characteristics in young patients with UM. MATERIAL AND METHODS: All patients with UM below the age of 32 years who had been treated at our hospital were included in the study. Patient age and sex, duration of symptoms, visual impairment, tumor size and location, genetics, therapy, follow-up interventions and tumor-associated deaths were documented. RESULTS: A total of 57 patients (67 % male, mean age 24.7 years) were included in the study with an average symptomatic course of 5 months. Of the patients 8 (14 %) had an initial visual acuity of ≥ 0.9, 16 (28 %) 0.5-0.8, 22 (39 %) 0.05-0.4 and 9 (16 %) < 0.05 (no data for 2 patients, 4 %). After therapy visual acuity was < 0.05 in 54 % and 53 % of the tumors were choroidal UM (70 % juxtapapillary/circumpapillary), whereas 47 % were ciliochoroidal (54 % with iridociliary involvement). The average tumor size was 12.7 ± 3.6 mm with an average prominence of 6.2 ± 3.2 mm. Genetic evaluation (n = 16) revealed disomy 3 in 64 % and 54 % of the patients received radiotherapy with local application of ruthenium 106. In 46 % of cases follow-up interventions were neccessary including 70 % due to radiogenic retinopathy. CONCLUSION: In young patients UM did not show any preferred localization. The majority of genetically evaluated tumors revealed disomy 3 with no significant correlation to tumor location. Independent of tumor size, location and therapy, approximately half of the patients needed follow-up interventions, predominantly due to radiogenic retinopathy.

[Immunotherapy of uveal melanoma: vaccination against cancer. Multicenter adjuvant phase 3 vaccination study using dendritic cells laden with tumor RNA for large newly diagnosed uveal melanoma]. / Immuntherapie beim Aderhautmelanom: Vakzination gegen Krebs. Multizentrische adjuvante Phase-III-Impfstudie mit Tumor-RNA-beladenen dendritischen Zellen bei neu diagnostizierten, großen Uveamelanomen.

Uveal melanomas are the most common malignant tumors of the eye. With modern molecular biological diagnostic methods, such as chromosome 3 typing and gene expression analysis, these tumors can be categorized into highly aggressive (monosomy 3, class II) and less aggressive forms. This molecular biological stratification is primarily important for determining the risk of these tumors as no therapy is currently available that is able to prevent or delay metastases. A randomized study of patients with a poor prognosis (monosomy 3) is currently being carried out in order to determine whether a cancer vaccine prepared from autologous (patient's own) dendritic cells and uveal melanoma RNA can prevent or delay progression and further metastases of this extremely aggressive form of cancer. Inclusion in the uveal melanoma study, which hopes to provide a potential therapeutic option for patients, is only possible if patients are referred to an institution that is able to manufacture and provide this vaccination before the patient is operated on or treated with radiation. Untreated tumor material is necessary for producing the vaccine on an individualized patient basis.

[Intraocular Tumors other than Retinoblastoma in Children]. / Intraokulare Raumforderungen im Kindesalter ohne Retinoblastom.

The diagnosis of an intraocular mass in children can be challenging as invasive procedures are not allowed, in particular if a retinoblastoma may be present. In eyes with a unilateral tumour mass and loss of function enucleation with subsequent histopathological processing might be the only option to establish a diagnosis and to exclude a malignant tumour. The present paper deals with intraocular tumours other than retinoblastoma in children, with a special focus on the correlation of modern imaging techniques and histopathological findings.

[Transretinal Biopsy of Intraocular Lymphoma]. / Transretinale Biopsie beim intraokularen Lymphom.

BACKGROUND: Intraocular lymphoma is in most cases a diagnostic challenge. Gold standard is a diagnostic vitrectomy. Vitreous biopsy and transretinal biopsies are therefore employed. METHODS: A retrospective analysis was undertaken of all cases of cytological or histological proven intraocular lymphoma between 2002 and the beginning of 2015 in our clinic. RESULTS: The diagnosis of intraocular lymphoma could be established in 16 cases by cytological or histological analysis. Six patients had previously been treated with steroids in the assumption of uveitis. Five of 16 patients had a systemic or CNS lymphoma in their history. The diagnosis of intraocular lymphoma could be made on the basis of a vitreous biopsy in only in 3 cases. In 7 cases an additional vitrectomy with transretinal biopsy was needed. In 1 case a transretinal biopsy was performed initially and in 1 case a re-transretinal biopsy was needed to establish the diagnosis. Two patients underwent iris biopsy to diagnose a secondary metastatic intraocular lymphoma. One amaurotic eye was diagnosed with intraocular lymphoma after enucleation. DISCUSSION: Due to the high relevance for the diagnosis intraocular lymphoma, when a vitreous biopsy was non-informative, a transretinal biopsy should always be considered in cases of retinal or subretinal involvement.

[Initial clinical experience in the treatment of vitreomacular traction and macular holes with ocriplasmin]. / Erste klinische Erfahrungen bei der Behandlung von vitreomakulären Traktionen mit Ocriplasmin.

BACKGROUND: The introduction and approval of Ocriplasmin as an intravitreally applicable drug in the pharmocological treatment of vitreomacular traction represents a new therapeutic approach possibly avoiding vitreoretinal surgery. With our article we report our first experience wih Ocriplasmin in clinical practice. METHODS: The indication for intravitreal therapy with Ocriplasmin was provided for symptomatic VMT or macular hole with VMT in 20 patients since March 2013. Surgery was planned in cases with remaining symptoms. Before IVI we performed SD-OCT. Best visual acuity (BCVA) was evaluated preoperatively, 7 and 28 days after treatment and finally every month in 14 treated eyes. SD-OCT images were analysed before treatment and later on with every follow-up examination. In addition to functional and morphological changes we analysed all side effects. RESULTS: The mean BCVA at the beginning of treatment was 0.3 and 0.4 before injection. The indications for treatment were as follows: symptomatic VMT in 10 patients and 4 patients suffering from full thickness macular hole stage 2. In 3 patients spontaneous regression of VMT could be observed with increasing of vision from 0.3 to 0.5. In one patient his macular hole was closed and BCVA increased from 0.2 to 0.6 within 7 days. Two patients showed significant enlargement of their macular holes after 7 days and finally underwent surgery. A massive cystoid macular oedema occurred in one patient. No change in the SD-OCT image could be observed 28 days after treatment. The mean visual acuity improved to 0.6 during a follow-up period of 90 days. Photopsia and disturbing vitreous opacities up to 28 days post injection could be regarded as minor side effects. CONCLUSION: Our first clinical experience with intravitreous injection of Ocriplasmin were performed to confirm the presumed therapeutic effect in patients suffering from VMT. Small macular holes could frequently be closed. The possibility of special side effects must be taken in consideration just as the possibility of spanteous improvement before performing IVI with Ocriplasmin. Further prospective studies must be recommended to be right about Ocriplasmin injections.

[New therapeutic strategies for retinoblastoma: non-systemic chemotherapy]. / Neue Therapiestrategien beim Retinoblastom: Nichtsystemische Chemotherapie.

Retinoblastoma is the most common primary intraocular malignancy worldwide. The known established standard therapies for bilateral disease, such as external beam radiation therapy or systemic chemotherapy often lead to a higher morbidity and increased risk of secondary malignancies, especially with radiation therapy. Therefore, new non-systemic chemotherapy strategies, such as the intra-arterial or intravitreal administration of melphalan are being revised with the aim of reducing systemic side effects.

[Endophthalmitis as a serious complication of intravitreal drug delivery]. / Endophthalmitis als schwere Komplikation der intravitrealen Medikamentengabe.

BACKGROUND: Endophthalmitis, regarded as a severe complication, can occur after intraocular injection of drugs (IVI). At present only few reports exist on the development of this disease, although recently the number of intraocular injections to treat especially age-related macular degenerations is increasing considerably. METHODS: In this paper we present our results of a retrospective study of 27 patients suffering from endophthalmitis after IVI. Treatment had been performed between January 2008 and March 2012. The indications for IVI were as follows: age-related macular degeneration 19, venous branch occlusion 1, diabethic retinopathies 6, uveitis 1. The following drugs were injected: bevacizumab in 8, Rranibizumab in 19 patients. The following data were assessed: incubation time, best corrected visual acuity that had been determined before treatment and later 3, 6 and 9 months after therapeutic vitrectomy. Additionally we describe the ophthalmoscopic changes and the results of bacteriological studies. RESULTS: Endophthalmitis was diagnosed 5.8 days after IVI on average. The vision of all patients had only been hand movements during the first examination. During the observation time the postoperative visual acuity could be improved only to 1/35 on average. During vitrectomy in 24 out of 27 patients a whitish retinal infiltration could be observed. 18 of 27 patients showed a hypopyon during slit lamp examination. 11 patients developed a retinal detachment and one eye had to be enucleated. CONCLUSIONS: Endophthalmitis must be regarded as a severe complication causing a high risk of retinal detachment with permanent loss of visual acuity. Retinal infiltrations and haemorrhages occur already in the early stages and cause finally a very poor prognosis. The incubation time as a rule amounts to 6 days. The increasing number of IVI and the high risk of damaged retinal structures due to intraocular infections should make postoperative retinal follow-up examinations mandatory, especially during the first 6 days.

[Value of transretinal tumor biopsy as diagnostic and predictive instrument]. / Stellenwert der transretinalen Tumorbiopsie als diagnostisches und prädiktives Instrument.

Transretinal biopsy of intraocular tumors plays a decisive role as a diagnostic tool in ocular oncology. A biopsy is indicated to confirm a clinical diagnosis before treatment and allows identification of high risk melanomas of the uvea with a high potential of metastasis by molecular genetic evaluation of the specimen. This review will focus on the various biopsy techniques and indications for this method.

[Uveal melanoma: current insights into clinical relevance of genetic testing]. / Aktuelles zur klinischen Bedeutung genetischer Veränderungen bei malignen Melanomen der Uvea.

Uveal melanoma is the most common primary intraocular tumour in Caucasians. There are approximately 500 new cases of uveal melanoma in Germany per year and the incidence rate peaks at the age of 70 years. Half of all uveal melanoma patients develop metastatic disease, which can be observed even many years after successful treatment of the primary tumour. In most cases the liver is the location of first manifestation. Based on the chromosome 3 status uveal melanomas can be divided into two major classes that differ in their metastatic potential. Tumours with a high risk to metastasise usually show monosomy 3, whereas tumours showing disomy 3 rarely metastasise. If a patient wishes to know about his individual risk, prognostic testing of the primary tumour tissue can be performed after obtaining tumour material via transscleral or transretinal biopsy, or by enucleation. To date results of prognostic testing do not influence therapeutic strategies. Recently, major key genes involved in uveal melanoma development, GNAQ, GNA11, BAP1, SF3B1 and EIF1AX, have been identified. Mutation profiling, in addition to chromosomal 3 analysis, will further refine the classification or subclassification of uveal melanomas and will hopefully influence diagnostic or therapeutic concepts. Hereditary mutations in tumour suppressor gene BAP1 are associated with an increased risk for different tumour entities. Detection of germ line mutations in this tumour suppressor gene should implicate further general screening examinations of the patient to be able to detect these tumour entities. Moreover relatives of these patients should be offered a screening for BAP1 mutation.