Pigmented medulloepithelioma of the optic nerve: A challenging diagnostic entity.

Because of its rarity, the diagnosis of optic nerve medulloepithelioma poses a real diagnostic challenge. Medulloepithelioma is a congenital tumor that derives from the primitive medullary epithelium present in the neural tube and the optic vesicle. Its classical location is the ciliary body. Cases of retinal or optic nerve locations have been rarely reported in the literature. Only 11 cases have been published in the English literature. Herein, we report the case of a 2-year-old boy who underwent enucleation of the right eye for a presumed diagnosis of right-eye retinoblastoma, based on the presence of leukocoria on ophthalmological examination. Pathological examination showed an optic nerve medulloepithelioma. A review of the literature is also discussed in our work.

Familial retinoblastoma: variations in clinical presentation and management based on paternal versus maternal inheritance.

BACKGROUND: Several studies have demonstrated the effect of parent-of-origin on retinoblastoma penetrance. The purpose of the current study was to assess differences in clinical presentation of paternally versus maternally inherited retinoblastoma. METHODS: The clinical records of all children with familial retinoblastoma treated on a tertiary Ocular Oncology Service between December 1975 and May 2020 were reviewed retrospectively. RESULTS: A total of 179 patients with familial retinoblastoma were included. Paternal inheritance (PI) was identified in 109 (61%) patients and maternal inheritance (MI) in 70 patients (39%). A comparison (PI vs MI) revealed PI patients were older at presentation (57.2 vs 24.4 months [P = 0.002]) with no difference in patient sex (53% females vs 57% males [P = 0.606]) or number of family members affected (3.2 vs 3.0 family members [P = 0.255]). PI patients had more advanced classification according to the International Classification of Retinoblastoma (ICRB) (group E: 31% vs 8% [P = 0.012)] and greater largest tumor in basal diameter (9.0 vs 6.2 mm [P = 0.040]) and thickness (5.6 vs 4.0 mm [P = 0.038]); they were also less likely to be located in the macula (40% vs 60% [P = 0.004]). There was no difference in tumor laterality (69% vs 64% bilaterality [P = 0.530]). PI patients required enucleation more frequently (34% vs 14% [P = 0.007]). There was no difference in need for plaque radiotherapy (P = 0.86) or chemotherapy (P = 0.85). One PI patient developed metastatic retinoblastoma, and there were no retinoblastoma-related deaths. CONCLUSIONS: Patients with paternally inherited retinoblastoma presented at an older age, with larger, more peripheral tumors and more advanced ICRB group, and were more likely to require enucleation compared to those with maternally inherited retinoblastoma.

Rehabilitation of pediatric retinoblastoma patients with ocular prostheses and their subsequent modifications: A 15-year retrospective study.

PURPOSE: Enucleation is a common treatment modality performed for pediatric retinoblastoma patients, and the resultant defects are reconstructed using an ocular prosthesis. The prostheses are modified or replaced periodically, as the child develops due to orbital growth and patient-error. The purpose of this report is to evaluate the replacement frequency of prostheses in the pediatric oncologic population. METHODS: A retrospective review was completed by the two senior research investigators, of patients that had ocular prostheses fabricated following enucleation of their retinoblastoma from 2005 to 2019 (n = 90). Data collected from the medical records of the patient included the pathology, date of surgery, date of prosthesis delivery, and the replacement schedule of the ocular prosthesis. RESULTS: During the 15-year study period, 78 enucleated observations (ocular prosthesis fabricated) were included for analysis. The median age of the patients at the time of delivery of their first ocular prosthesis was calculated to be 2.6 years (range 0.3-18 years). The median time to the first modification of the prosthesis was calculated to be 6 months. The time to modification of the ocular prosthesis was further stratified by age. CONCLUSION: Pediatric patients require modification of their ocular prostheses throughout their growth and development period. Ocular prostheses are reliable prostheses with predictable outcomes. This data is helpful to set an expectation among the patient, parent, and provider.

Correlating somatic copy number alteration in aqueous humour cfDNA with chemotherapy history, eye salvage and pathological features in retinoblastoma.

BackgroundThis study determined to probe the potential association between somatic copy number alteration (SCNA) in retinoblastoma (RB) aqueous humour (AH) and pathological high-risk factors, clinical features and previous chemotherapy history. METHODS: Single-centre retrospective cohort study from including 58 AH samples collected from 58 patients diagnosed. Among them, 41 samples were collected after enucleation and 17 samples were collected before intravitreal chemotherapy. SCNAs were accessed by conducting shallow whole-genome sequencing in cell-free (cf) DNA of AH. HRs and ORs were applied to measure risk factors. RESULTS: Canonical RB SCNAs including 1q gain (87%), 2p gain (50%), 6p gain (76%), 16q loss (69%) were frequently detected. Non-classical RB SCNAs in AH including 17q gain (53%), 19q loss (43%), 7q gain (35%) were also commonly observed. 19q loss was significantly more common in patients with cT3c or worse stage than others (p=0.034). 2p gain(p=0.001) and 7q gain(p=0.001) were both more common in patients with primary enucleation than those with previous chemotherapy. Interestingly, both 2p gain (HR=1.933, p=0.027) and 7q gain (HR=2.394, p=0.005) might predict enucleation. Correlation analysis with pathological features among enucleated eyes showed that 19q loss can predict a higher risk for both massive choroid invasion (OR=4.909, p=0.038) and postlaminar optic nerve invasion (OR=4.250, p=0.043). DISCUSSION: Sequencing of AH cfDNA in RB can provide sufficient in vivo information. 19q loss was a potential signature of advanced cases clinically and pathologically.Repeated sampling from eyes receiving sequential chemotherapy should be conducted to evaluate fluctuation of SCNA in future study.

Socket outcomes following enucleation for uveal melanoma: post enucleation socket syndrome can be challenging.

PURPOSE: To evaluate socket outcomes of enucleation for uveal melanoma. METHODS: This study was a retrospective chart review conducted in December 2022 of all patients who underwent enucleation surgery for uveal melanoma between 2010 and 2015 in the Royal Victoria Eye and Ear Hospital, to evaluate socket outcomes including completion of revision surgery, type of surgery, and completion of multiple revision surgeries, and potential associations. RESULTS: Between June 2010 and December 2015, 72 patients underwent enucleation for uveal melanoma in the ocular oncology service, including 25 females and 47 males, mean age 65, range 11-91 years old. There were 68 primary enucleations and 4 secondary enucleations. Complete follow-up data was available for mean 4 years, range 1-11 years. Fourteen patients underwent further surgery, including one exenteration for local recurrence. Oculoplastic surgery (n = 6, 8%), implant exposure repair (n = 3, 6%), and orbit volume expanding surgery (n = 4, 6%) were also performed. Eight patients (11%) underwent one further surgery and five patients (7%) underwent a series of procedures. There was a significant association with younger age at enucleation (age <65) with undergoing further surgery (p = 0.03, Fisher's Exact Test (FET)), and also an association of younger age with undergoing multiple further surgeries (p = 0.02, FET). There was no association found with other predictor variables, including primary versus secondary enucleation status. Most patients (75%) with PESS underwent more than one surgery. CONCLUSION: Post enucleation surgery 82% of patients did not undergo further surgery, but younger patients were more likely to undergo anophthalmic socket revision or oculoplastic surgery. Management of post enucleation socket syndrome was challenging and usually involved a series of procedures.

PATIENT-RELATED FACTORS AND CLINICAL MANAGEMENT OUTCOMES OF RETINOBLASTOMA IN CALABAR, NIGERIA.

Background: Retinoblastoma is curable in industrialized countries. However, it is associated with mortality in resource-poor nations due to disparities and poor access to eye care. Aim was to determine the relationships between patient-related factors and clinical outcomes of Retinoblastoma management in a tertiary hospital in Nigeria. Materials and methods: This was a retrospective study of all children who were diagnosed and treated for Retinoblastoma from January 2017 through December 2022. Information obtained from their records included biosocioeconomic data, symptoms, lag time from initial symptoms, staging, treatment and outcome (dead or alive). Results: Fifty-three patients, aged 6 to 88 months on first hospital presentation were recruited. There were 29(54.7%) females and 20(37.7%) patients died. Parental low socioeconomic class, rural residence and poor nutrition occurred more in those that survived, though not significantly (p>0.05). Median(interquartile) age at diagnosis [24(18-36) months, p=0.005] and lag time [13(6-20) months, p=0.274] were low in the survived group. Bilateral Retinoblastoma (20.8%,p=0.002), brain metastasis (22.6%,p<0.001), IRSS IV (18.9%,p=0.01) and relapse (34%,p<0.001) occurred more among the patients that died. The overall survival (OS) was 22(11.77-32.23) months with 1-year OS of 63%. Treatment with only chemotherapy [HR 4.76(95%CI:1.726-13.128)], incomplete chemotherapy [HR 5.61(95%CI:1.271-24.741)], relapse [HR 5.98(95%CI:1.376-25.983)] and eye surgery after 3 chemotherapy cycles [HR 8.22(95%CI:1.087-62.239)] were predictors of mortality. Conclusion: Early presentation of retinoblastoma especially of advanced and bilateral disease may lead to improved survival if chemotherapy and eye surgery are appropriately performed. Routine screening and immediate referral of retinoblastoma particularly in rural areas are recommended.

Aplicación orbitaria de productos de relleno para optimización de simetría en pacientes con microftalmia o cavidades anoftálmicas adquiridas: revisión de la literatura / Aplicación orbitaria de productos de relleno para optimización de simetría en pacientes con microftalmia o cavidades anoftálmicas adquiridas: revisión de la literatura Orbital administration of fillers for optimization of symmetry in patients with microphthalmos or acquired anophthalmic sockets: A review

El tratamiento de la asimetría facial en pacientes con microftalmos o cavidades anoftálmicas adquiridas suele requerir cirugías reconstructivas agresivas. En los últimos años se han publicado trabajos sobre el uso de rellenos para optimizar la simetría del tejido orbitario, como técnicas mínimamente invasivas.Por este motivo, hemos realizado una revisión sistemática de la literatura publicada hasta el momento sobre la administración orbitaria de rellenos para el tratamiento de la pérdida de volumen. Se identificaron 14 artículos que cumplían con los criterios de selección; en los que se analizó el material utilizado, la técnica de inyección, el estudio anatómico de los pacientes antes del procedimiento y la presencia de complicaciones asociadas. Los materiales utilizados como relleno son: la grasa autóloga, la hidroxiapatita cálcica, el colágeno, el ácido hialurónico o el gel de poliacrilamida. Se aplicaron técnicas estándar de inyección peribulbar y retrobulbar, con escasas complicaciones asociadas, siendo la má grave el desarrollo de cuadros vaso-vagales. El seguimiento de los pacientes suele limitarse en la mayoría de los estudios a 12 meses, con variaciones significativas en la exoftalmometría posprocedimiento. En conclusión, la utilización de rellenos parece una práctica segura y con buenos resultados, aunque se precisan estudios con tiempo de seguimiento más prolongado que los publicados hasta el momento. (AU)

The treatment of facial asymmetry in patients with microphthalmos or acquired anophthalmic cavities usually requires aggressive reconstructive surgeries. In recent years, studies have been published on the use of fillers to optimize orbital tissue symmetry, as minimally invasive techniques.For this reason, we performed a systematic review of the literature published to date on the use of fillers for the treatment of volume loss in acquired anophthalmic or microphthalmic cavities. Fourteen articles were reviewed in which the material used, the injection technique, the anatomical study of the patients before the procedure and the presence of associated complications were analyzed.Various materials have been used as fillers, including autologous fat, calcium hydroxyapatite, collagen, hyaluronic acid, or polyacrylamide gel. Standard peribulbar and retrobulbar injection techniques were applied, with few associated complications, the most serious being the development of vasovagal symptoms. Patient follow-up is usually limited in most studies to 12 months.In Conclusion, the use of fillers seems to be a safe practice, with good results and few complications, although studies with longer follow-up times than those published to date would be required. (AU)

Presentation pattern and survival rate of retinoblastoma following chemotherapy: a prospective study.

BACKGROUND: This study presents the clinical pattern of presentation and survival rate of retinoblastoma, which is the most prevalent form of pediatric intraocular cancer. The aim of this study is to provide baseline information about the clinical presentation and management of retinoblastoma at ECWA Eye Hospital. Additionally, the study identifies priority areas for enhancing medical care for children diagnosed with this cancer. ECWA Eye Hospital, situated in Kano State, Nigeria, is a specialized eye center located in the North-Western region of the country. METHODS: A prospective study spanning five years was conducted at ECWA Eye Hospital to investigate clinically diagnosed cases of retinoblastoma. The study took place from January 2018 to December 2022. The patients received standardized pre-medication and chemotherapy protocols for retinoblastoma. Subsequently, a five-year follow-up was conducted to monitor the patients' progress. The collected data was analyzed, descriptive statistics were generated, and the survival rate was calculated. RESULTS: During the five-year study period, a total of 35 cases of retinoblastoma were diagnosed. The patients had an average age of 3.21 ± 1.32 years. The most common presentation patterns observed were fungating ocular mass and proptosis. Among the cases, there were 10 instances of bilateral proptosis and 25 instances of unilateral proptosis. While no patients exhibited bilateral leukocoria, eight cases of unilateral leukocoria with anterior segment seedlings were identified. The additional patterns of presentation are proptosis, leukocoria, fungating orbital mass, redness and loss of vision. The mortality rate was 80% (28 cases), while the survival rate was 20% (7 cases). Notably, all the survivors had unilateral retinoblastoma. CONCLUSION: The majority of cases observed at ECWA Eye Hospital involve advanced retinoblastoma. In low-resource settings where alternative treatment options are limited, chemotherapy is considered a viable treatment option. Early presentation of retinoblastoma in patients may lead to a higher survival rate when chemotherapy is administered.

Tumor Profiles of Late Presentation Uveal Ring Melanoma With Novel Characteristics - A Case Series.

Purpose: The purpose of this study was to investigate the clinical features, tumor characteristics, including histopathology and cytogenetic analysis, and management of patients with uveal ring melanoma in New Zealand. Methods: A retrospective review was conducted on all uveal melanoma cases treated in a single national oncology center in New Zealand. The study period was from January 1, 2013 to December 31, 2022 (10 years). Written consent was obtained from all patients included in this case series. Results: Uveal ring melanoma of ciliary body origin (n = 4) comprised 0.7% of all uveal melanomas (n = 571). Ethnicity distribution was three patients of New Zealand European ancestry and one patient of Chinese/Pasifika ancestry. Three patients (75%) were symptomatic at presentation (spontaneous hyphema, glaucoma, and cataract), whereas one was asymptomatic but subsequently developed painful refractory glaucoma. All eyes underwent enucleation. Three eyes had primary iris biopsies with subsequent enucleation for refractory glaucoma and pain and one eye underwent primary enucleation. All cases demonstrated malignant tumor characteristics including diffuse 270 to 360-degree ciliary body ring growth pattern, epithelioid-cell type and presence of either BAP-1 expression loss or gain of MYC gene. Two cases (50%) developed distant organ metastasis - liver, parotid gland, and breast. Of those, one patient was deceased at the time of follow-up whereas one had completed treatment for metastases. Conclusions: Uveal ring melanoma is a rare tumor that is highly invasive and malignant. When detected, prompt definitive treatment should be advocated, and patient counselling should be given regarding the high risk of developing a painful, blind eye with increased risk of metastasis in the absence of treatment.

Orbital administration of fillers for optimization of symmetry in patients with microphthalmos or acquired anophthalmic sockets: A review.

The treatment of facial asymmetry in patients with microphthalmos or acquired anophthalmic sockets usually requires aggressive reconstructive surgeries. In recent years, studies have been published on the use of fillers to optimize orbital tissue symmetry, as minimally invasive techniques. For this reason, we performed a systematic review of the literature published to date on the use of fillers for the treatment of volume loss in acquired anophthalmic or microphthalmic cavities. Fourteen articles were reviewed in which the material used, the injection technique, the anatomical study of the patients before the procedure and the presence of associated complications were analyzed. Various materials have been used as fillers, including autologous fat, calcium hydroxyapatite, collagen, hyaluronic acid, or polyacrylamide gel. Standard peribulbar and retrobulbar injection techniques were applied, with few associated complications, the most serious being the development of vasovagal symptoms. Patient follow-up is usually limited in most studies to 12 months. In Conclusion, the use of fillers seems to be a safe practice, with good results and few complications, although studies with longer follow-up times than those published to date would be required.

Persistent socket pain in a dog after the enucleation of the eye and its clinical management.

Persistent socket pain is a condition described in humans after enucleation of the eye. This report aims at describing this condition in dogs. A 10-year-old male-neutered crossbreed was presented to the referral veterinary surgeon for enucleation of the right ocular globe. Anaesthesia and surgery were uneventful although during the postoperative period the dog was reluctant to open the mouth and to be explored by the referral veteterinary surgeon. Despite treatment with meloxicam, paracetamol and tramadol, no improvements were observed. Ten weeks after surgery, the dog was referred to the Dick White referrals for further investigations. Ophthalmic examination was normal, though palpation of the wound triggered an avoidance response. Magnetic resonance imaging showed changes compatible with orbital cellulitis. The area of interest was evaluated with the use of the mechanical Von Frey filaments. A response, characterised by sudden turning of the head and attempts to withdraw it, was evoked with filament 4.93 (8.0 g) during stimulation of the periorbital area. After induction of anaesthesia, an ultrasound-guided injection containing levobupivacaine 0.5% and methylprednisolone was performed within the retrobulbar area. Three hours after recovery from anaesthesia, no discomfort was observed during palpation of the area. Re-evaluation was performed with the Von Frey filaments; no response could be evoked during testing with all 20 filaments (from 2.36 to 6.65) applied on either side of the face. The patient was discharged with a course of gabapentin and, 3 weeks after the intervention, the dog showed no clinical signs of pain. Persistent socket pain is an unpleasant sensation at the level of the enucleated orbit, and it should be regarded as a challenging condition to diagnose and treat. The MRI findings appeared to be essential to select the most appropriate interventional treatment. The injection of local anaesthetic and steroid into the retrobulbar space was useful for both confirming the diagnosis and treating pain by reducing the peripheral signalling and decreasing the residual inflammation.

Surgical outcomes of unwrapped acrylic orbital implants: A review of 192 patients.

PURPOSE: The purpose of this study is to report the results in a series of acrylic orbital implant placements without the use of wrapping material. METHODS: We retrospectively reviewed the records of the patients who underwent enucleation with acrylic orbital implant insertion without scleral wrapping at the Department of Ophthalmology, Poznan University of Medical Sciences, Poland, between 2013 and 2020. RESULTS: There were 192 patients: 102 women and 90 men, mean age: 60 years (range: 13-90 years). In the majority of cases, the reason for enucleation was uveal melanoma (148 patients-77.1%), followed by secondary glaucoma in 22 patients (11.5%) and painful, phthisical eye in 16 (8.3%). The median follow-up was 23 months (range: 1-96 months). The stability of the implants was satisfactory in the majority of cases, and there were no cases of implant migration identified during the study period. We noted a total of 4 (2%) implant exposures. Other postoperative complaints included eyelid malposition-21 patients (11%), Tenon's capsule thinning (15 patients-7.8%) and post-enucleation eye socket syndrome (PEES)-7 patients (3.6%). The rate of postoperative complications was associated only with a history of previous ocular surgery (P=0.006). CONCLUSIONS: The stability and functional outcomes of unwrapped acrylic orbital implants in this group of patients were satisfactory during the follow-up period.

Subconjunctival enucleation with or without third eyelid removal may present a viable enucleation technique in rabbits: 18 cases (2014-2022).

OBJECTIVE: To evaluate intraoperative and postoperative complications and outcomes following subconjunctival enucleations with and without third eyelid removal in domestic rabbits. ANIMALS: 18 client-owned rabbits with ocular disease confined to the globe that underwent 20 subconjunctival enucleation procedures at a veterinary teaching hospital. METHODS: Records were retrospectively reviewed for all enucleations performed at a veterinary teaching hospital from 2014 to 2022. A standard subconjunctival enucleation procedure was performed in all cases, with third eyelid removal in 2 surgeries and without third eyelid removal in the remaining 18 surgeries. Outcomes were assessed on the basis of observations in medical records and owner follow-up. RESULTS: 20 total enucleations were included. Reported reasons for enucleation included suspected or confirmed ocular Encephalitozoon cuniculi infection in 9 rabbits, refractory glaucoma in 4 rabbits, and various intraocular diseases in 5 rabbits. The only intraoperative complication reported was hemorrhage during the third eyelid removal in 1 surgery. Postoperative complications included serous to mucoid discharge from the surgical site in 8 of 20 surgeries and swelling at the surgery site in 2 of the 8 cases that had discharge. Postoperative swelling spontaneously resolved within 3 months of surgery; postoperative discharge spontaneously resolved within 10 months of surgery. CLINICAL RELEVANCE: Subconjunctival enucleation with or without third eyelid removal in rabbits may be a viable enucleation technique to reduce the risk for intraoperative hemorrhage, but it can result in postoperative complications, including transient discharge and swelling at the surgical site.

Painful-blind eye: A forgotten palliative care.

Painful-blind eye (PBE) is a challenging and debilitating condition that greatly affects the quality of life of patients. Although PBE can result from a variety of etiologies, currently there is no guideline or consensus on how to approach therapeutically these patients, and most treatments are experience-based. We summarized the evidence from available studies to investigate the current state of PBE treatment strategies. This review revealed that the information available about therapeutic approaches in patients with PBE is insufficient and outdated, therefore, new experimental and larger studies are needed to reach an agreement about this condition.

[Epidemiological impact of the COVID-19 pandemic on enucleation cases in Germany]. / Epidemiologische Auswirkungen der COVID-19-Pandemie auf Enukleationsfälle in Deutschland.

PURPOSE: To determine the rate of enucleation in Germany and the impact that the COVID-19 pandemic may have had on its characteristics. METHODS: The rates of enucleation in Germany during 2019 and 2020 were extracted from the diagnosis-related groups (DRG) registry using the operation and procedure classification system codes 5­163.0 through 5­163.23 and 5­163.x. The data were statistically analyzed. RESULTS: The number of enucleations showed a 16.6% reduction from 1295 cases in 2019 compared to 1080 cases in 2020 (p = 0.17). In both years men averaged 54.1% of cases. Patients older than 65 years represented 53% and 56% of cases in 2019 and 2020, respectively. The most common indication for enucleation in both years was phthisis bulbi (n = 373 and n = 307, respectively), accounting for 29.7% of the cases, followed by choroidal malignancies (24%). Enucleation with the simultaneous introduction of an alloplastic orbital implant into Tenon's capsule represented the most common procedure (38.7% combined 2­year average), followed by a sheathed variant (26.6%) and a bulbar implant made of nonabsorbable microporous material (16.8%), without a significant change between years. Enucleations without the introduction of an implant increased from 7.8% in 2019 to 11.1% in 2020 (p = 0.006). The proportion of patients undergoing a reoperation slightly increased from 5.6% to 8% (p = 0.018). Most procedures (65.6%) were performed in large (> 1000 beds) public hospitals. CONCLUSION: Despite the decrease in the total number of procedures performed, the rate of enucleation in Germany was not significantly altered by the COVID-19 pandemic. The rate of enucleation without implants and reoperations significantly increased.

Material risk: vitreoretinal surgery, evisceration, enucleation and sympathetic ophthalmia-where are we currently?

Sympathetic ophthalmia (SO) is known to occur after severe penetrating eye injury, evisceration and even enucleation surgery. Recent evidence suggests that a greater risk lies after multiple vitreoretinal procedures. The risk of SO following evisceration is only minimally greater than that following enucleation surgery. This review evaluates literature on SO to date and provides figures for the risk of developing SO for the purposes of the consent process. The issue of SO and Material Risk following vitreoretinal surgery is reviewed and figures for the purposes of consent are outlined. This is of particular relevance for patients in whom the contralateral eye is and will likely remain the better seeing eye. Sympathetic ophthalmitis is known to occur after severe penetrating eye injury, after evisceration and enucleation. More recently, sympathetic ophthalmitis has been recognised to occur after vitreoretinal surgery. This article reviews the evidence on material risk when consenting patients for elective and emergency eye procedures after ocular trauma or surgery. When a globe needs to be removed because of irreparable ocular injury, previous publications dictated the procedure to be an enucleation because of the fear of an increased risk of SO after an evisceration. Perhaps the issue of material risk of sympathetic ophthalmia (SO) remains over-emphasised by ophthalmic plastic surgeons and under-recognised by vitreoretinal surgeons during the consent process for evisceration, enucleation and vitreoretinal surgery. Antecedent trauma and number of previous surgeries may actually be a more significant risk factor than the type of eye removal. Recent medicolegal cases also help us understand the importance of the discussion of this risk. We present our current understanding of the risk of SO after different procedures and suggest how this information may be included in a patient consent.

Impacto del COVID-19 en una enfermedad rara (melanoma uveal) en una unidad de referencia nacional de tumores intraoculares en España / Impact of COVID-19 on a rare disease (uveal melanoma) in a national reference unit of intraocular tumors in Spain

Objetivo Analizar el impacto de la pandemia por COVID-19 en el diagnóstico y manejo del melanoma uveal (tumor incluido en el catálogo de enfermedades raras por Orphanet), en una unidad de referencia nacional española de tumores intraoculares, durante el primer año de pandemia. Materiales y métodos Se realizó un estudio retrospectivo observacional de pacientes con melanoma uveal en la Unidad de Referencia Nacional de Tumores Intraoculares del Adulto del Hospital Clínico Universitario de Valladolid (España), analizando los periodos pre- y pos-COVID-19: del 15 de marzo de 2019 al 15 de marzo de 2020 y del 16 marzo de 2020 al 16 de marzo de 2021. Se recogieron datos demográficos, demora diagnóstica, tamaño del tumor, extensión extraocular, tratamiento y evolución. Se utilizó un modelo de regresión logística multivariable para identificar los factores que se asociaron a la variable: enucleación. Resultados Se incluyeron 82 pacientes con melanoma uveal, de los cuales 42(51,21%) pertenecían al periodo pre-COVID-19 y 40(40,78%) al periodo pos-COVID-19. Se observó un aumento del tamaño tumoral al diagnóstico y del número de enucleaciones durante el periodo pos-COVID-19 (p<0,05). La regresión logística multivariable demostró que tanto el tamaño tumoral mediano-grande como los pacientes diagnosticados en el periodo pos-COVID-19 estaban relacionados de forma independiente con un riesgo mayor de enucleación (OR 250, IC95%, 27,69-2256,37; p<0,01 y OR 10; IC95%,1,10-90,25; p=0,04, respectivamente). Conclusiones El incremento del tamaño tumoral observado en los melanomas uveales diagnosticados durante el primer año de pandemia por COVID-19 pudo favorecer el aumento de las enucleaciones realizadas en dicho periodo (AU)

Objective To analyze the impact of the COVID-19 pandemic on the diagnosis and management of uveal melanoma (a tumor included in the Orphanet catalog of rare diseases) in a Spanish national reference unit for intraocular tumors during the first year of the pandemic. Material and methods An observational retrospective study of patients with uveal melanoma in the National Reference Unit for Adult Intraocular Tumors of the Hospital Clínico Universitario de Valladolid (Spain) was performed, analyzing the pre- and post-COVID-19 periods: from March 15, 2019 to March 15, 2020 and from March 16, 2020 to March 16, 2021. Demographic data, diagnostic delay, tumor size, extraocular extension, treatment and evolution were collected. A multivariable logistic regression model was used to identify factors that were associated with the variable: enucleation. Results Eighty-two patients with uveal melanoma were included, of which 42(51.21%) belonged to the pre-COVID-19 period and 40(40.78%) to the post-COVID-19 period. An increase in tumor size at diagnosis and in the number of enucleations was observed during the post-COVID-19 period (p<0.05). Multivariable logistic regression demonstrated that both medium-large tumor size and patients diagnosed in the post-COVID-19 period were independently related to an increased risk of enucleation (OR 250, 95%CI, 27.69-2256.37; p<0.01 and OR 10; 95% CI,1.10-90.25; p=0.04, respectively). Conclusions The increase in tumor size observed in uveal melanomas diagnosed during the first year of the COVID-19 pandemic may have favored the increase in the number of enucleations performed during that period (AU)

Retinotectal plasticity induced by monocular enucleation during the critical period is dependent of A2a adenosine receptor: A possible role of astrocytes.

The retinotectal topography of rats develops within the first three postnatal weeks during the critical period. Previous studies have shown that monocular enucleation results in plasticity of the intact retinotectal pathway in a time-dependent manner. Glial fibrillary acidic protein (GFAP), an astrocyte marker, is up-regulated after central nervous system injury. Adenosine is a neuromodulator involved in the development and plasticity of the visual system acting through the inhibitory A1 and excitatory A2a receptor activities. Herein, we examined whether adenosine receptors and astrocytes are crucial for monocular enucleation (ME)-induced plasticity. We also investigate whether A2a blockade alters retinotectal plasticity in an astrocyte-dependent manner. Lister Hooded rats were submitted to monocular enucleation at postnatal day 10 (PND10) or PND21 and, after different survival times, were processed for immunohistochemistry or western blotting assays. Another group underwent subpial implantation of ELVAX containing vehicle (DMSO) or SCH58261 (1 µM - an A2a receptor antagonist), simultaneously with ME at PND10. After a 72 h survival, GFAP content and the retinotectal plasticity were evaluated. Our data show that monocular enucleation leads to an upregulation in GFAP expression in the contralateral superior colliculus. At PND10, a slight increase in GFAP labeling was observed at 72 h post-enucleation, while at PND21 GFAP increase was detected in the deafferented superior colliculus after 1 to 3 weeks of survival. The content of adenosine receptors also varies in the contralateral target after ME. A transient increase in A1 receptors is observed in the early periods of plasticity, while A2a receptors are upregulated later. Interestingly, the local blockade of A2a receptors abolished the increase in GFAP and the retinotectal reorganization induced by monocular enucleation during the critical period. Taken together these results suggest a correlation between astrocytes and A2a adenosine receptors in the subcortical visual plasticity.