Ocular and orbital manifestations in VEXAS syndrome.

BACKGROUND: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical centre. METHODS: A retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical centre over two years. RESULTS: Eight patients were identified with VEXAS. In six patients, the diagnosis was confirmed by genomic sequencing. Two patients were identified based on their phenotype. All patients were males. The mean age at diagnosis was 78.7 years. In two patients, the ocular manifestation was the presenting symptom for VEXAS. Seven patients (87.5%) had history of MDS. Systemic inflammation manifestations include: skin rash (n = 5), recurrent fevers (n = 2), relapsing polychondritis (n = 2), pleuritis and pleural effusion (n = 2), poly arteritis nodosa- PAN (n = 1) and thrombophlebitis (n = 1). Seven (87%) patients were presented with periorbital oedema. Three patients showed orbital inflammation. Dacryoadenitis was observed in two patients, and extraocular muscle (EOM) myositis was detected in two patients. Four patients demonstrated ocular inflammation such as: episcleritis, scleritis and anterior uveitis. CONCLUSION: ocular manifestations in VEXAS include orbital inflammation, dacryoadenitis, myositis, uveitis, scleritis, episcleritis and periorbital oedema. We recommend that in old male patients, with history of haematological disorder, presenting with ocular symptom, VEXAS investigation should be taken into consideration.

Congenital ptosis repair in children: comparison of frontalis muscle suspension surgery and levator muscle surgery.

PURPOSE: Comparing the surgical and refractive outcomes of congenital ptosis repair by different surgical techniques. METHODS: This longitudinal cohort study reviewed medical records of 101 patients who underwent congenital ptosis repair, from 2006 to 2022 in a single center. Analysis was performed for demographic background, co-morbidities, pre-operative and post-operative ocular examinations and refraction, complications, reoperations, and success rates. RESULTS: Following exclusion criteria, we remained with 80 patients (103 eyes) who underwent either frontalis muscle suspension surgery (FMS) (55 eyes) or levator muscle surgery (LM) (48 eyes). Patients in the FMS group were younger (mean age of 3.1 vs. 6.0 years, p < 0.001) and had worse pre-operative ocular assessments including prevalence of visual axis involvement, chin-up head position, ptosis severity, and levator muscle function (LF) (p < 0.001). Both groups had a 25% rate of reoperation, however while in the LM group reoperation was required solely due to undercorrection, in the FMS group various indications prompted reoperation. Success rate was higher in the FMS group (87.3% vs. 60.4%, p = 0.002). While pre-operative astigmatism was higher in the LM group (p = 0.019), no significant differences were observed post-operatively. Spherical and spherical equivalent changes over time were significant only in the FMS group (p = 0.010 and p = 0.004, respectively). CONCLUSIONS: Within our cohort, a higher success rate of congenital ptosis repair was observed among patients who underwent FMS compared to LM, despite similar reoperation rates. In cases of severe ptosis and moderate LF, LM demonstrated a lower-than-anticipated success rate. Astigmatic changes following ptosis repair were not consistent in either group.

Transorbital endoscopic-assisted management of intraorbital lesions: Experience of 11 cases.

PURPOSE: To present our experience in the management of selected extraconal orbital roof lesions utilizing the transorbital endoscopic approach. METHODS: A retrospective case series of patients who underwent transorbital endoscopic orbital surgery in a single medical center between 2015 to 2020. RESULTS: Eleven patients underwent transorbital endoscope assisted surgery for various indications. The mean age at surgery was 31.9 years (range, 6-73 years). Mean follow-up time was 18 months (range, 1-30). The aim of surgery was curative in 10 cases and diagnostic in one patient. Adequate specimen for tissue diagnosis was obtained from all patients. In 8 patients the procedure was completed through a superior eyelid crease incision, and in three patients a combined approach including functional endoscopic sinus surgery was used for achieving complete excision. None of the patients required conversion to an external wider orbital procedure. Intraoperative complication included cerebrospinal fluid leak in one case, which was addressed immediately; and postoperative complications included one case of pre-septal orbital cellulitis treated by intravenous antibiotics with complete resolution. CONCLUSION: Endoscopic-assisted transorbital approach enabled safe removal of selected lesions involving the orbital roof and provides an effective and less invasive alternative to a traditional frontal craniotomy or lateral orbitotomy.

Endoscopic dacryocystorhinostomy: reasons for failure.

OBJECTIVE: Endoscopic dacryocystorhinostomy (DCR) is a widely performed and safe procedure for the treatment of nasolacrimal duct obstruction manifested as epiphora or dacryocystitis. Current success rates are above 90%. Data on causes for failure of the procedure are sparse. We investigated the influence of several preoperative parameters on surgery outcome and to establish that parameters are linked with failure. METHODS: A retrospective analysis of the medical records of all consecutive patients who underwent endoscopic DCR in the Tel-Aviv Medical Center, a tertiary referral center, between January 2010 and August 2016 were retrospectively examined and data on the occurrence of surgical failure and reasons for failure were retrieved. RESULTS: A total of 165 patients (183 eyes) were included. The overall success rate for the surgery was 94.7%. The parameters that correlated significantly with failure were coexisting diabetes mellitus (P = 0.037), allergy to medications (P = 0.034), and prior ocular surgery (P = 0.043). There was no correlation between the surgical failure rates and facial trauma, previous nasal or lacrimal surgery, or the usage of a stent. CONCLUSION: Endoscopic DCR is a safe and effective surgical procedure. Diabetes mellitus, allergies, and previous ocular surgery may lead to surgical failure. Patients with these risk factors should be aware of increased failure rates.

A modified tarsorrhaphy in patients with facial nerve palsy.

PURPOSE: We report our experience with a modified tarsorrhaphy (MT) technique in patients with facial nerve palsy (FNP). METHODS: This study involved a retrospective chart review of patients with FNP undergoing MT over a 10-year period in one Medical Center. Patient demographics, presence of lagophthalmos, occurrence of eyelid malpositions, recurrent retraction, and repeat procedures were noted from medical records. RESULTS: Twenty patients (11 females, mean age 38 years) were included. Mean follow-up was 41 months (range 6-132). All patients had lagophthalmos prior to surgery compared with four on last follow-up. The number of patients with punctate epithelial erosions (PEEs) reduced from nine preoperatively to five postoperatively. While seven patients used lubricating drops prior to surgery, two stopped lubrication completely and five reduced the amount after surgery. No patients developed a new-onset lower eyelid malposition. No recurrence or postoperative complications were noted. CONCLUSION: This MT technique avoids grey line split and excision of orbicularis muscle or skin. It improves lower eyelid retraction and reduces lagophthalmos in FNP.

Aminobisphosphonate-associated orbital and ocular inflammatory disease.

PURPOSE: Aminobisphosphonates may cause orbital/ocular inflammation. Awareness of the clinical presentation and disease course is crucial. The purpose of this study was to analyse demographics, clinical presentation, disease course and treatment of aminobisphosphonate-associated orbital/ocular inflammation in a large series of patients. METHODS: A retrospective study of patients with aminobisphosphonate-associated orbital/ocular inflammation and a literature review to differentiate disease presentation and course between various aminobisphosphonates. RESULTS: Eight patients from our institution (6 women and 2 men, median age 62 years) were included. The used drugs were zoledronate, alendronate and risedronate. The most common clinical presentation was conjunctival hyperaemia/chemosis. Scleritis was the most common manifestation, followed by diffuse orbital inflammation and anterior uveitis. Ultrasound aided in diagnosis in all our patients. The aminobisphosphonate was halted in all patients, and some patients had anti-inflammatory treatment. Literature review included 68 patients (83 eyes), of them the most abundant drugs causing orbital/ocular inflammation were pamidronate (38 eyes) and zoledronate (35 eyes). Overall, among 76 patients, all drugs induced orbital disease, while uveitis was induced mostly by zoledronate and pamidronate, less by alendronate and not found among risedronate users. Time interval from drug administration to symptoms was hours to 28 days. Resolution was achieved in all patients, after 1-60 days from disease presentation, and the longer resolution period was found among alendronate users. CONCLUSION: Orbital/ocular inflammation was mostly caused by intravenous aminobisphosphonates. Uveitis was not induced by risedronate. The putative aminobisphosphonate should be halted at the onset of orbital/ocular involvement and prognosis is favourable.

Orbital Inflammatory Syndrome Post Group A Streptococcal Infection - Case Series and Review of Literature.

OBJECTIVE: To report new cases of orbital inflammatory syndrome (OIS) post group A streptococcal (GAS) infection and review the literature. METHODS: A retrospective case series of patients with OIS post GAS infection seen in our clinic (from January 2015 to December 2016) and review of additional patients from the literature. RESULTS: A total of nine patients with OIS post GAS infection were included in the study (four patients seen in our clinic and five from previous literature); seven females and two males, three children (under the age of 16), and six adults. Eight patients (89%) presented with a single rectus muscle (5 medial, 3 lateral) myositis, and one (11%) presented with posterior scleritis and diffuse OIS. CONCLUSIONS: Although there are very few reports on OIS post GAS infection, it may be more common than previously thought and should be considered in the differential diagnosis of patients with orbital inflammation.

Polyester Urethane Implants for Orbital Trapdoor Fracture Repair in Children.

PURPOSE: The objective of this study was to present the surgical and clinical outcomes of polyester urethane implants in orbital trapdoor fracture repair in children. This is the first study reporting on the use of polyester urethane implants to repair orbital fractures. MATERIALS AND METHODS: A retrospective review was performed of children with orbital trapdoor fracture who underwent surgical repair in the authors' medical center over 6 years. The trapdoor fracture diagnosis was based on clinical and computed topographic findings. RESULTS: Eight patients with trapdoor fracture were identified. All cases were repaired by polyester urethane implant placement. Patients' mean age was 13.5 years and mean follow-up was 13.6 months. All patients had orbital floor fractures. Two fractures also involved the medial wall. Seven patients had inferior rectus muscle entrapment and 1 had medial rectus muscle entrapment. Three patients had residual diplopia on extreme upgaze after the surgical repair. No patient had enophthalmos or infraorbital paresthesia at the end of follow-up. No postoperative complications associated with the used material were reported. CONCLUSION: The polyester urethane implant is a reliable, safe, inexpensive, and effective implant for trapdoor fracture repair in children. It can serve as a promising alternative to implants fabricated from other synthetic materials for orbital floor fracture repair.

Avoiding dacryocystorhinostomy in cases of epiphora caused by inferior meatus obstruction.

AIMS: To determine the role of inferior meatus pathologies as an underdiagnosed cause of epiphora. METHODS: This study was conducted in the oculoplastic institution of Tel Aviv medical center-a regional referral center. A retrospective review of files of patients presenting to the lacrimal clinic with nasolacrimal duct obstruction between October 2010 and September 2016. Cases in which a pathology of the inferior meatus was identified and treated are presented in this article. RESULTS: During this time frame, we preformed 186 endoscopic dacryocystorhinostomy surgeries. Out of those, eight patients (4.3%) were diagnosed and treated for pathology causing an obstruction of the inferior meatus. Seven of our patients were females; the mean age was 24 years. A wide range of pathologies were found: cysts, dacryoliths, membranes obstructing the inferior meatus, and concheal obstruction. All patients went through endoscopic treatment targeted at the cause of obstruction. During follow-up (average 35 months) only two patients remained symptomatic and were referred for an endonasal endoscopic dacryocystorhinostomy. CONCLUSIONS: Inferior meatus obstruction is an underdiagnosed cause of epiphora. Multiple pathologies may co-exist in the same patient. In select cases of NLDO, diagnosis and treatment can be done endoscopically, avoiding the need for dacryocystorhinostomy.

A combined one-stage surgical approach of orbital tumor debulking, lid reconstruction, and ptosis repair in children with orbitotemporal neurofibromatosis.

BACKGROUND AND AIM: To describe a series of children with neurofibromatosis type 1 (NF1) and a plexiform neurofibroma of the orbit with ptosis who underwent a combined one-stage surgery for tumor debulking, lid reconstruction, and ptosis repair. METHODS: A retrospective review of 6 cases of combined one-step surgeries for orbital plexiform neurofibroma with ptosis. RESULTS: The study included 6 children (4 boys, mean age 3.4 years). Follow-up time was at least 9 months. All children had unilateral orbitofacial plexiform. All children underwent a combined one-stage surgery performed by a single surgeon for tumor debulking, lid reconstruction, and ptosis repair. There was significant improvement in upper lid height and lid contour postoperatively in all the patients. One patient had early recurrence and underwent another two surgeries in the following years. CONCLUSION: A combined surgical approach for orbital involvement in NF1 results in favorable immediate results, though late recurrence may require additional surgical interventions in the future.

Periocular and anterior orbital necrosis after upper eyelid gold weight loading: operation-related or self-inflicted?

A 44-year-old woman, who had undergone gold-weight implantation due to facial palsy and lagophthalmos, arrived at the ophthalmology ward with eyelid swelling and erythema, which rapidly deteriorated under intravenous antibiotics to a necrotic process involving the periocular tissues, the eye, and the anterior orbit. Despite prompt removal of the gold weight, the patient's ocular and systemic condition continued to deteriorate, necessitating evisceration and debridement of necrotic tissue. Cultures showed growth of Staphylococcus epidermidis, Staphylococcus capitis, Candida glabrata, and Candida albicans, and histopathology demonstrated an acute nonspecific necrotizing panophthalmitis. Later on, the patient was admitted to a plastic surgery ward with recurrent severe burns of her thigh, which were highly suggestive of being self-induced, raising the possibility of self-induced damage.

Outcomes of endonasal endoscopic dacryocystorhinostomy after maxillectomy in patients with paranasal sinus and skull base tumors.

Maxillectomy followed by radiotherapy and/or chemotherapy can result in lacrimal blockage and the need for subsequent dacryocystorhinostomy (DCR). Endonasal endoscopic DCR, as opposed to external DCR, allows better accuracy and leaves no scar. To date no report was published regarding the results of endoscopic DCR in these patients. The current study presents a retrospective review of all patients with paranasal and skull base tumors who developed nasolacrimal duct blockage after ablative maxillectomy with or without radiotherapy and/or chemotherapy and underwent endonasal endoscopic DCR between January 2006 and October 2012 in a tertiary reference medical center. According to our results, ten patients underwent 11 subsequent endonasal endoscopic DCR. There were 6 men and 4 women with a median age of 55 years (range, 19-81 years); four suffered from benign tumors and six had malignant tumors. All underwent maxillectomy. Six received high-dose radiotherapy. Time interval between primary ablative surgery and endonasal endoscopic DCR was 18 months (range, 7-118 months). Silicone stents were removed after median period of 11 weeks (range, 1-57 weeks). Nine out of ten patients experienced symptomatic improvement following one endonasal endoscopic DCR. One patient had recurrent epiphora and underwent a successful endonasal endoscopic revision DCR. In conclusion, endonasal endoscopic DCR in patients with paranasal and skull base tumors, who previously underwent maxillectomy, is generally successful and not associated with a high rate of complications or failure. Moreover, our findings may suggest that silicone stents can be removed shortly after the operation with high success rate.

Foreign body embedded in anterior chamber angle.

Introduction. We present a case of a metallic foreign body embedded in the anterior chamber angle. After standing in close proximity to a construction worker breaking a tile, a 26-year-old woman using soft contact lens for the correction of mild myopia presented to emergency department for evaluation of a foreign body sensation of her right eye. Methods and Results. Diagnosis was confirmed by gonioscopic examination and a noncontrast CT scan of head and orbits. The foreign body was removed by an external approach without utilizing a magnet. The patient's final outcome was favorable. Discussion. The above is a rare clinical situation, which is impossible to detect on slit-lamp examination without a gonioscopic view. Proper imaging and a specific management are mandatory in order to achieve favorable outcome.

Donor scleral patch for treating hypotony due to leaking and/or overfiltering blebs.

OBJECTIVE: To report a modified technique of bleb revision with the use of a donor scleral patch in cases in which scleral melting did not allow effective suturing and closure of the aqueous leak. The suturing technique ensures tight adaptation of the scleral patch over the leaky region, and allows better-controlled aqueous flow with loose suturing of the posterior edge of the scleral patch. METHODS: Records of patients who underwent bleb revision with donor scleral graft from 1997 to 2003 were reviewed retrospectively. Chart information including demographic and clinical data was recorded preoperatively and 1 day, 1 week, 1 month, 6 months, and at final follow-up. RESULTS: Fifteen patients underwent this surgical procedure for bleb revision. The mean follow-up time was 22.0 +/- 24.0 months (median = 8.0 months). The mean preoperative visual acuity was 20/50 and the mean intraocular pressure (IOP) was 2.9 +/- 2.3 mm Hg, which improved to 20/30 and 14.1 +/- 3.3 mm Hg respectively, on last follow-up. CONCLUSIONS: The scleral patch with 4-nylon sutures should be proposed in cases in which a macerated scleral bed is revealed during the revision. The loose suturing of the scleral patch at its posterior border was found to prevent intraocular pressure spikes.

[Ptosis--etiology, diagnosis and management].

Ptosis is a common complaint in patients who refer to ophthalmologists especially oculoplastic surgeons. Occasionally, ptosis may be the presenting sign or symptom of a systemic disease. Therefore, it is of great importance to know the causes of ptosis, its clinical presentation, and the systemic evaluation that one must undergo before going into surgery. This review presents the common causes of ptosis according to age of appearance, systemic diseases that must be ruled out, and the surgical options that exist.