Living with satisfactory vision and no comorbidity 28 years after bilateral retinoblastoma: a case report and mini literature review

Background: Retinoblastoma is the most common primary intraocular malignancy in children, although it is a rare neural retinal tumor. Improving the quality of life is the next goal after the primary medical goal of life preservation. The genotype-phenotype correlation may vary with the progression of retinoblastoma. Expressivity is determined by different RB1 gene mutations among individuals. Herein, we share our experience on the evaluation of the long-term progression of retinoblastoma, its treatment consequences, its impact on the quality of life, and how the underlying genotypes are related to the phenotypes. We provide a review of the relevant literature and present a case of a sporadic heritable bilateral retinoblastoma. Case Presentation: We report the outcomes of a 28-year follow-up of a female diagnosed with an infantile disease. The patient’s best eye, according to the tumor classification and genetic results, was treated conservatively whereas the worst eye was enucleated. On re-examinations, she had complications of the treatment she received. Therefore, another intervention was administered for several years. The patient’s pathogenic variant and RB1 gene mutational inactivation were predispositions to the recurrence of the tumor and non-ocular primary malignancy. Nevertheless, the disease had no progression. The patient is stable despite her type of retinoblastoma, which is the sporadic heritable bilateral form. Conclusions: Each phenotype of bilateral retinoblastoma varies in progression. The nature of the genetic mutation may determine its expressivity. It is of great significance to individualize every decision. In each case, the sequelae of the disease and treatment-induced complications may have an impact on the quality of the patient’s life

Diagnostic and therapeutic advances as well as new surgical techniques in vitreoretinal diseases

In this thesis, we investigated new biomarkers and potential therapeutic targets for vitreoretinal diseases, using modern diagnostic tools, such as flow cytometry. At the same time, we have investigated the possible diagnostic application of aptamers, short single-stranded oligonucleotides, in ophthalmology. Our study included vitreous sample analysis, focusing more on patients with rhegmatogenous retinal detachment with or without proliferative vitreoretinopathy and on diabetic patients with proliferative diabetic retinopathy and diabetic macular edema. Proliferative vitreoretinopathy was independently related with LCN2 concentration (coefficient b = 2.97, 95% confidence interval = 1.89 to 4.67, p<0.001). Increased level of LCN2 was correlated to the increased expression of IL6, IL8, ICAM, VCAM-1 and MCP-1. Elevated levels of LCN2 have also been found in the vitreous of patients with proliferative diabetic retinopathy and especially in patients with diabetic macular edema. We have also observed the role of the other measured factors, in the inflammatory processes that develop in these vitreoretinal diseases, confirming the current literature. Larger studies could elucidate if LCN2 could be a biomarker and even a therapeutic target. Finally, after reviewing the literature, it was found that the most flexible and cost-efficient method for the development of diagnostic biosensors, specific for vitreous samples would be aptamers. The development of a biosensor with higher affinity and specificity for the detection of LCN2 vitreous levels could be useful not only for research purposes but in clinical practice as well.Με την παρούσα διατριβή γίνεται προσπάθεια ανίχνευσης νέων βιοδεικτών και εν δυνάμει θεραπευτικών στόχων, σε υαλοαμφιβληστροειδικές παθήσεις, με σύγχρονα διαγνωστικά μέσα όπως η κυτταρομετρία ροής. Παράλληλα γίνεται διερεύνηση νέων διαγνωστικών μεθόδων, βασισμένων στα απταμερή και η δυνατότητα εφαρμογής τους στην οφθαλμολογία. Η μελέτη περιλάμβανε ανάλυση δειγμάτων υαλοειδούς και επικεντρώθηκε κυρίως σε ασθενείς με ρηγματογενή αποκόλληση αμφιβληστροειδούς με ή χωρίς παραγωγική υαλοαμφιβληστροειδοπάθεια καθώς και σε διαβητικούς ασθενείς με διαβητική αμφιβληστροειδοπάθεια και διαβητικό οίδημα ωχράς κηλίδας. Βρέθηκε ότι ο βαθμός παραγωγικής υαλοαμφιβληστροειδοπάθειας σχετιζόταν ανεξάρτητα με τα επίπεδα της λιποκαλίνης2 (LCN2) (συντελεστής b=2,97, 95% διάστημα εμπιστοσύνης = 1.89 έως 4.67, p<0,001, R2=66%). H αύξηση της LCN2 σχετιζόταν με την αύξηση των IL6, IL8, ICAM, VCAM-1 και MCP-1. Αυξημένα επίπεδα LCN2 βρέθηκαν και στο υαλοειδές των ασθενών με παραγωγική διαβητική αμφιβληστροειδοπάθεια και ιδιαίτερα σε αυτούς με διαβητικό οίδημα της ωχράς κηλίδας. Επίσης, επιβεβαιώθηκε ο ρόλος των υπολοίπων παραγόντων, στις φλεγμονώδεις διεργασίες που αναπτύσσονται στις παθήσεις αυτές, επιβεβαιώνοντας την τρέχουσα βιβλιογραφία. Μεγαλύτερες μελέτες θα μπορέσουν να καθορίσουν τη Λιποκαλίνη 2 ως βιοδείκτη ή θεραπευτικό στόχο. Τέλος μετά από ανασκόπηση της βιβλιογραφίας διαπιστώθηκε ότι η πιο οικονομική, ευέλικτη και αποτελεσματική επιλογή για την ανάπτυξη διαγνωστικών βιοαισθητήρων ειδικά για δείγματα υαλοειδούς θα ήταν με τη χρήση απταμερών. Η ανάπτυξη ενός βιοαισθητήρα με μεγαλύτερη συγγένεια και ειδικότητα ως προς την ανίχνευση των επιπέδων λιποκαλίνης υαλοειδούς, θα ήταν χρήσιμη τόσο για ερευνητικούς σκοπούς όσο και στην καθημερινή κλινική πράξη

Bilateral Hypertensive Retinopathy Complicated with Retinal Neovascularization: Panretinal Photocoagulation or Intravitreal Anti-VEGF Treatment

Purpose: To present the case of a patient with bilateral hypertensive retinopathy complicated with retinal neovascularization who received anti-VEGF intravitreal injection in one eye and panretinal photocoagulation (PRP) in the fellow eye. Methods: A 33-year-old male patient presented with gradual visual loss in both eyes for the last 5 months. At that time, he was examined by an ophthalmologist and occlusive retinopathy due to malignant systematic hypertension was diagnosed. He was put on antihypertensive treatment but no ophthalmic treatment was undertaken. At presentation, 5 months later, best-corrected visual acuity (BCVA) was 0.1 in the right eye (RE) and 0.9 in the left eye (LE). Fundus examination was compatible with hypertensive retinopathy complicated with retinal neovascularization. Fluorescein angiography (FFA) revealed macular ischemia mainly in the RE and large areas of peripheral retinal ischemia and neovascularization with vascular leakage in both eyes. The patient was treated with two anti-VEGF (ranibizumab) injections with 2 months interval in the RE and PRP laser in the LE. Results: Follow-up examination after 12 months showed mild improvement in BCVA, and FFA documented regression of retinal neovascularization in both eyes. Conclusion: Hypertensive retinopathy can be rarely complicated with retinal neovascularization. Treatment with PRP can be undertaken. In our case, the use of an intravitreal anti-VEGF agent seemed to halt its progression satisfactorily

Retinal Arterial Occlusive Diseasein a Young Patient with Cat Scratch Disease

Purpose: To report an unusual case of a branch retinal arterial occlusion and bilateral multifocal retinitis in a young woman with cat scratch disease. Methods: A 23-year-old woman was referred to our clinic complaining of a sudden scotoma in the upper part of the visual field of her left eye. Fundoscopy revealed occlusion of an inferior temporal branch of the retinal artery in the left eye and bilateral multifocal retinitis, which was confirmed by fluorescein angiography. Subsequent indocyanine angiography did not reveal choroidal involvement. Laboratory analysis showed rising IgG titers for Bartonellahenselae. Results: Cat scratch disease was diagnosed, and a 4-week course of doxycycline was initiated. The patient responded well to the antibiotics. Both retinitis and arterial occlusion were resolved, the visual field was regained and the patient reported elimination of her symptoms. Conclusions: Cat scratch disease should be considered in the differential diagnosis in young patients with retinal occlusive disease

Vitrectomy for the removal of idiopathic epiretinal membrane with or without internal limiting membrane peeling: a meta-analysis

Purpose: The aim of this study is to analyze the effect of internal limiting membrane peeling in removal of idiopathic epiretinal membranes through meta-analysis. Methods: We searched PubMed for studies published until 30 April 2018. Inclusion criteria included cases of idiopathic epiretinal membranes, treated with vitrectomy with or without internal limiting membrane peeling. Exclusion criteria consisted of coexisting retinal pathologies and use of indocyanine green to stain the internal limiting membrane. Sixteen studies were included in our meta-analysis. We compared the results of surgical removal of epiretinal membrane, with or without internal limiting membrane peeling, in terms of best-corrected visual acuity and anatomical restoration of the macula (central foveal thickness). Studies or subgroups of patients who had indocyanine green used as an internal limiting membrane stain were excluded from the study, due to evidence of its toxicity to the retina. Results: Regarding best-corrected visual acuity levels, the overall mean difference was -0.29 (95% confidence interval: -0.319 to -0.261), while for patients with internal limiting membrane peeling was -0.289 (95% confidence interval: -0.334 to -0.244) and for patients without internal limiting membrane peeling was -0.282 (95% confidence interval: -0.34 to -0.225). Regarding central foveal thickness levels, the overall mean difference was -117.22 (95% confidence interval: -136.70 to -97.74), while for patients with internal limiting membrane peeling was -121.08 (95% confidence interval: -151.12 to -91.03) and for patients without internal limiting membrane peeling was -105.34 (95% confidence interval: -119.47 to -96.21). Conclusion: Vitrectomy for the removal of epiretinal membrane combined with internal limiting membrane peeling is an effective method for the treatment of patients with idiopathic epiretinal membrane