Alexandra Anton

Renal cancer in von Hippel–Lindau disease and related syndromes

Sporadic and hereditary forms of renal cell carcinoma (RCC), von Hippel–Lindau (VHL) disease and the familial paraganglioma syndromes are closely related in terms of their clinical, molecular, and genetic aspects. Most RCCs occur sporadically and the heritable fraction of RCC is estimated to be just 2–4%. An understanding of the molecular genetic basis, the disease-specific and gene-specific biology and the clinical characteristics of these cancer syndromes is of utmost importance for effective genetic diagnosis and appropriate treatment. In addition, such insight will improve our understanding of sporadic RCCs. To date, 10 different heritable RCC syndromes have been described. VHL syndrome is the oldest known hereditary RCC syndrome. Similar to VHL disease, phaeochromocytoma is a major manifestation of the paraganglioma syndromes types 1, 3 and 4 in which RCCs have been reported. These syndromes are therefore regarded as VHL-related disorders and are included in this Review. Multifocal tumours, bilateral occurrence, a young age at diagnosis and/or family history are clinical red flags suggestive of hereditary disease and should trigger referral for genetic and molecular analysis. The identification of an underlying genetic alteration enables gene-specific risk assessment and opens up the possibility of a tailored follow-up strategy and specific surveillance protocols as the basis of effective preventive medicine. The important goals of preventive medicine are to increase the life expectancy of affected patients and to improve their quality of life. The study of seemingly rare hereditary syndromes and their susceptibility genes has consistently revealed clues regarding the aetiology and pathogenesis of these diseases, and can aid diagnosis and the development of therapeutics for patients affected by much more common sporadic counterparts.

Ab Interno Trabeculectomy With the Trabectome as a Valuable Therapeutic Option for Failed Filtering Blebs.

Purpose:Uncontrolled intraocular pressure (IOP) after glaucoma filtration surgery is a challenging problem in the management of glaucoma patients. The Trabectome is a device for selective electroablation of the trabecular meshwork through a clear cornea incision without affecting the conjunctiva. Minimally invasive glaucoma surgery using the Trabectome is safe and effective as primary glaucoma surgery. Here we investigate the results of ab interno trabeculectomy with the Trabectome for IOP control in patients with a failed filtering bleb. Methods:A total of 60 eyes of 60 consecutive patients with primary open-angle glaucoma (POAG) or pseudoexfoliative glaucoma (PXG) were enrolled in this single center observational study. Trabectome surgery was performed alone or in combination with phacoemulsification by 2 experienced surgeons. IOP readings and number of IOP lowering medication as primary outcome parameters were taken by an independent examiner. Intraoperative and postoperative medication were recorded systematically. Results:Mean IOP before surgery was 24.5±3.5 mm Hg and decreased to 15.7±3.4 (−36%) after mean follow-up of 415 days. The number of necessary IOP lowering medication dropped from 2.1±1.3 to 1.8±1.2 (14% reduction from baseline). A total of 25% (n=15) of cases reported here needed additional surgery after 517 days (range: 6 to 1563 d). No major complications were observed. After mean follow-up, we found a qualified success rate for PXG of 87% and 50% for POAG as revealed by the Kaplan-Meier analysis according to the definitions for success in advanced glaucoma cases according to the World Glaucoma Association (40% reduction from baseline IOP and maximum IOP of 15 mm Hg). Discussion:Trabectome surgery for uncontrolled IOP after trabeculectomy is safe and effective especially in PXG patients. Given the demanding subgroup of patients studied here, it is not surprising that success rates are lower compared with previous studies investigating the Trabectome for primary glaucoma surgery. The number of necessary IOP lowering medication drops at first, but seems to reach preoperative values after 20 months of follow-up. Trabectome surgery should be considered as a valuable escape procedure for patients with failed filtering blebs and uncontrolled IOP.

Einfluss des Body-Mass-Index auf den Erfolg nach Trabektomoperation?

BACKGROUND The aim of this study was to investigate a possible influence of body mass index (BMI) to the outcome of trabectome surgery. METHODS 131 eyes with primary open angle glaucoma, myopia-associated glaucoma and pseudoexfoliation glaucoma were included into this retrospective study. The data were extracted from the Freiburg trabectome database from June 2009 to April 2013. We fitted a Cox proportional hazards model in order to assess the influence of the BMI on trabectome outcome. RESULTS The absolute success after trabectome surgery (20 % pressure reduction without anti-glaucomatous medication) was statistically significantly better in the group with BMI > 25 kg/m(2) (p = 0.047). No statistically significant effect was observed for relative success or the rate of re-operation respectively. CONCLUSION In our patient cohort of 131 eyes, a high BMI was associated with a reduced success, as long as an absolute success is required. No difference is seen if additional anti-glaucomatous medication is acceptable (relative success).

Abhängigkeit der Größe der OCT-Bruch-Membran-Öffnung von Hornhautkorrekturfaktoren – eine Pilotstudie

Background: The measurement by optical coherence tomography (OCT) of the Bruch membrane opening (BMO) and the thinnest retinal fiber nerve layer in relation to it (BMO-MRW) has been performed in clinical routine since 2014. To compensate for astigmatism, or increased or decreased corneal power, a correction is performed through the mean K-value of the measured eye. The aim of this study was to measure the value of this correction and its influence on the measurement results. Methods: The sectors of BMO-MRW and BMO values of the five right eyes of five healthy patients were measured five times each with Heidelberg Spectralis OCT. Corneal compensation was systematically raised with each single measurement (7.1, 7.4, 7.7, 8.0, 8.3 mm). RESULTS The data showed almost linear dependence on the given corneal compensation values, with intraindividual variability. For the BMO-MRW, only small effects of compensation were found (0.85 up to 1.97 % per K-value difference of 0.3 mm). For BMO, the effect was greater, with a mean change of 7.71 % for every 0.3 mm change in compensation. Conclusion: For BMO-MRW, corneal compensation is of low clinical relevance. BMO is more dependent on this correction. In follow-up measurements, the compensation might not account for significant changes, although we recommend using correct corneal compensation values when obtaining single or first-time measurements.

[Trauma-related secondary glaucoma in childhood: a therapeutic challenge].

CASE REPORT We performed a minimally invasive trabeculotomy using a trabectome on a 9-year-old boy with a trauma-related secondary glaucoma where the intraocular pressure (IOP) could not be controlled by conservative approaches. After a 1-year follow-up the patient showed well controlled IOP values without using drugs to reduce pressure. CONCLUSION Trabectome surgery seems to be a suitable first step intervention for trauma-related glaucoma in selected cases, even in children.

Traumatisches Sekundärglaukom im Kindesalter

CASE REPORT We performed a minimally invasive trabeculotomy using a trabectome on a 9-year-old boy with a trauma-related secondary glaucoma where the intraocular pressure (IOP) could not be controlled by conservative approaches. After a 1-year follow-up the patient showed well controlled IOP values without using drugs to reduce pressure. CONCLUSION Trabectome surgery seems to be a suitable first step intervention for trauma-related glaucoma in selected cases, even in children.

Traumatisches Sekundärglaukom im Kindesalter@@@Trauma-related secondary glaucoma in childhood: Eine therapeutische Herausforderung@@@A therapeutic challenge

CASE REPORT We performed a minimally invasive trabeculotomy using a trabectome on a 9-year-old boy with a trauma-related secondary glaucoma where the intraocular pressure (IOP) could not be controlled by conservative approaches. After a 1-year follow-up the patient showed well controlled IOP values without using drugs to reduce pressure. CONCLUSION Trabectome surgery seems to be a suitable first step intervention for trauma-related glaucoma in selected cases, even in children.