Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the VHL tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in several crucial cellular processes. VHL variations have been associated with the development of VHL disease and erythrocytosis. The association between genotypes and phenotypes still remains ambiguous for the majority of mutations. It appears that there is a distinction between erythrocytosis-causing VHL variations and VHL variations causing VHL disease with tumor development. Understanding the pathogenic effects of VHL variants might better predict the prognosis and optimize management of the patient.
The aim of this article is to provide an overview of characteristics and principles of use of dexamethasone implant in patients with diabetic macular edema (DME). The condensed information about patient selection, dosing, and postinjection management is provided to make the clinician’s decisions easier in real-life practice. DME is a common complication of diabetes and the leading cause of visual loss in the working-age population. Inflammation plays an important role in the pathogenesis of DME. The breakdown of the blood–retinal barrier involves the expression of inflammatory cytokines and growth factors, including vascular endothelial growth factor (VEGF). Steroids have proved to be effective in the treatment of DME by blocking the production of VEGF and other inflammatory cytokines, by inhibiting leukostasis, and by enhancing the barrier function of vascular endothelial cell tight junctions. Dexamethasone intravitreal implant has demonstrated efficacy in the treatment of DME resistant to anti-VEGF therapy and in vitrectomized eyes. Data from clinical trials suggest that dexamethasone implant can be considered as first-line treatment in pseudophakic eyes. Dexamethasone implant is also the first-line therapy in patients not suited for anti-VEGF therapy, pregnant women, and patients unable to return for frequent monitoring. It has been shown that the maximum effect of dexamethasone implant on visual gain and retinal thickness occurs approximately 2 months after injection. Various treatment regimens are used in real-life situations, and reported reinjection intervals were usually <6 months. The number of retreatments needed decreased over time. Treatment algorithms should be personalized. Postinjection management and follow-up should consider potential adverse events such as intraocular pressure elevation and cataract.
The purpose of this study was to investigate inflammatory cells in vitreous from patients with proliferative diabetic retinopathy (PDR) using flow cytometric analysis. Twenty-eight patients with PDR requiring vitrectomy because of macular traction or tractional retinal detachment were enrolled in the study (), and 6 patients with macular hole (MH) formed the control group. Samples of vitreous and peripheral venous blood were obtained at the beginning of vitrectomy. T lymphocytes were found in vitreous from patients with PDR, and CD4/CD8 ratio was higher in vitreous (median 4.3) compared to blood (median 1.9;). No B lymphocytes were detected in vitreous. The percentage of histiocytes/macrophages was significantly higher in vitreous (median 62.1) in comparison with blood (median 5.5;). No lymphocytes were detected in vitreous of the control group. There were more T lymphocytes in vitreous from patients with active PDR. No association between cells in the vitreous and visual acuity improvement after surgery was found. In conclusion, T lymphocytes are found in vitreous from patients with PDR and reflect the activity of PDR but do not seem to predict visual prognosis. Higher CD4/CD8 ratio in vitreous compared to blood from patients with PDR is consistent with local inflammatory response in PDR.
Purpose: To report the results of intravitreal treatment with bevacizumab in neovascular age-related macular degeneration (AMD) after a loading dose (LD) of three monthly injections followed by an optical coherence tomography (OCT)-guided strategy, based on best-corrected visual acuity (VA) and number of injections required over 1 year. Methods: A series of consecutive cases of 149 eyes of 147 patients received three or more intravitreal injections of bevacizumab (1.25 mg) for neovascular AMD over a 1-year period. The patients underwent ophthalmological examinations: measurement of the VA, fluorescein angiography, dilated fundus examination at baseline; VA, OCT and dilated fundus examination at monthly follow-up visits. Repeated injections were given each month for the first 3 months (LD); thereafter, injections were only administered if leakage or macular oedema were present. Results: Mean baseline VA was 51 ± 14 letters, which improved to 58 ± 15 letters (p < 0.0001; n = 149) at first evaluation (15 ± 2 weeks), 59 ± 15 letters (p < 0.0001; n = 143) at second evaluation (25 ± 2 weeks) and 57 ± 16 letters (p < 0.0001; n = 132) at third evaluation (51 ± 3 weeks). The baseline mean central retinal thickness (344.6 μm) and total macular volume (8.6 mm3) decreased at first evaluation, to 219.0 μm (p < 0.0001) and 7.2 mm3 (p < 0.0001), respectively. The mean number of injections per patient treated for 1 year was 5.1 (range 3–9). No systemic side-effects were noted. Conclusion: Treatment of neovascular AMD with intravitreal bevacizumab administered in LD of three monthly injections and followed by an OCT-guided strategy provides functional and anatomical improvements for up to 1 year.
Aim. Functional and morphological macular study after cataract surgery in a group of diabetics without diabetic retinopathy compared to nondiabetics to evaluate the effect of surgical oxidative stress on diabetic retina.Methods. Prospective, comparative study. Preoperative eye exam, best corrected visual acuity (BCVA) measured by ETDRS letters, and optical coherence tomography (OCT) were followed by standard cataract surgery. The follow-up visits at 1, 3, and 6 months postoperatively included BCVA, OCT, and microperimetry, to analyze changes within and between the groups.Results. The BCVA improved significantly in diabetics and controls: 64.2 to 81.0 and 61.9 to 82.1 ETDRS at 6 months, respectively. The central macula at OCT significantly thickened in both groups, while the central 5 fields, corresponding to the microperimetry area, subclinically thickened from 284.20 to 291.18 μm at 6 months only in diabetics (). A matching slight decrease in the microperimetry sensitivity from 1 to 6 months was found also only in diabetics, with mean average difference −0.75 dB ().Conclusion. Underlying diabetes does not influence the surgical outcome in diabetics without diabetic retinopathy. However, slight thickening of wider macula and corresponding decrease in retinal sensitivity observed in diabetics 6 months postoperatively might influence visual function on long term.
Purpose: To report two cases of solitary unilateral vitreous cyst. Methods: A complete ocular examination, fundus photography, B-scan ultrasound and spectral-domain optical coherence tomography were performed in both patients. Results: The first patient (a 39-year-old man) presented with transient blurred vision in the right eye. The second patient (a 78-year-old man) reported transient blurred vision in the right eye when changing head position. He was referred to the Eye Hospital because of vitreomacular traction in the other eye. After examination, a diagnosis of vitreous cyst was made in both cases. Conclusions: Vitreous cysts are rare clinical findings. They can occur in normal eyes or in eyes with certain ocular pathologies. When a cyst floats into the visual axis area, it can disturb visual function; therefore, patients usually report transient blurring of vision. A prompt clinical examination is necessary for differentiating this rare condition.