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.

Surfboard Related Orbital and Periocular Injury.

PURPOSE: The objective of this study is to present the complexity of surfboard related orbital and periocular injuries and to discuss the different prevention aspects of such injuries. METHODS: A retrospective review was performed on surfing related orbital and periocular injuries cases in a single tertiary medical center over a period of 10 years. RESULTS: Six patients at a mean age of 34 (range 20-50) years were evaluated. All were amateur surfers. Five patients had an orbital fracture, 3 had a full thickness eyelid laceration, 3 had lacrimal drainage system damage and 3 had intraocular findings related to trauma, but no perforation of the globe was observed. Two patients had complete optic nerve avulsion or transection, 1 of them had extraocular muscle transection. Five patients underwent surgery and 2 required an additional surgical intervention. At the end of follow-up, 3 patients had an unrepairable lacrimal drainage damage, 2 had a malposition of an eyelid, 2 eyes remained blind, 1 patient had a hypoglobus, and 1 had hypoesthesia in distribution of infraorbital nerve. CONCLUSIONS: Surfboard related orbital injuries may cause a severe orbital injury, which may debilitate and disable a previously active and healthy group of young people. Hence, protective gear wear should be more vigorously encouraged as already been done in other sports.

Oculoplastic Surgeries in Patients Older than 90 Years of Age.

PURPOSE: To report the epidemiology, indications and surgical outcomes of oculoplastic surgeries in older adults (≥ 90 years old). METHODS: A retrospective study was conducted reviewing the medical charts of 114 patients aged 90 years old and older who underwent oculoplastic procedures from 2010 to 2020. Data retrieved from the medical records included: past medical and ocular history, indication for surgery, type of surgery, intra and post-operative complications, pathological analysis for removed tissues, and surgical outcome in the last follow-up. RESULTS: One hundred and twenty eight surgeries were performed on 114 patients (male: female = 1:1). The mean age was 92.95 years old (± 3.12 SD). Six patients (5.2%) were older than 100 years old. The most common indication for surgery was lower lid malpositioning (32%). Mass/lesion excision was performed in 34 procedures (25%). Forty-three biopsies were analyzed and basal cell carcinoma was found to be the most common pathological diagnosis (32%). Hypertension was the most common associated systemic comorbidity (79 patients, 69%). 80% of the surgeries were performed under local anesthesia. Surgical revision was required in seven patients (5.2%). One patient had suffered from a minor stroke one day after the surgical pocedure. The same patient had orbital-skin fistulas after orbital exenteration. CONCLUSION: In our experience, oculoplastic surgeries among the elderly population are safe without significant complications and can usually be performed under local anesthesia. Advanced age should not prevent surgery, especially if the procedure may improve vision and quality of life.

Lacrimal sac diverticulum: clinical presentation and endoscopic management.

BACKGROUND: To describe the clinical presentation, surgical intervention and clinical outcomes of patients with a lacrimal sac diverticulum. METHODS: Retrospective chart review of all patients who underwent endonasal endoscopic dacryocystorhinostomy (DCR) in a single medical center from January 2010 to October 2020. The diagnosis of a lacrimal sac diverticulum was based upon intraoperative findings. RESULTS: In total, 406 patients underwent endonasal endoscopic DCR during the study period. Eight female patients (mean age 35 years) were diagnosed with a lacrimal diverticulum and underwent DCR by an endonasal endoscopic approach. The mean follow-up period was 11.5 months. All eight patients had cystic findings at the lacrimal fossa on imaging studies prior to surgery. Five patients had a history of dacryocystitis. The main presenting symptoms were epiphora and/or medial canthal swelling. The diverticulum was identified on the inferior wall in seven cases. A dacryolith in the lacrimal sac was identified intraoperatively in two patients. All patients showed full resolution of symptoms after surgery. There were no intraoperative or postoperative complications. CONCLUSION: Lacrimal sac diverticulum is a rare entity with female predominance. It may be the underlying etiology of epiphora and/or dacryocystitis. The diagnosis is based upon identifying the presence of a diverticulum intraoperatively. Endoscopic DCR is an effective approach for integrating both the lacrimal sac and diverticulum cavities into a single space, leading to resolution of symptoms.

Retinal Lineage Therapeutic Specific Effect of Human Orbital and Abdominal Adipose-Derived Mesenchymal Stem Cells.

Retinal degenerative diseases are one of the main causes of complete blindness in aged population. In this study, we compared the therapeutic potential for retinal degeneration of human mesenchymal stem cells derived from abdominal subcutaneous fat (ABASCs) or from orbital fat (OASCs) due to their accessibility and mutual embryonic origin with retinal tissue, respectively. OASCs were found to protect RPE cells from cell death and were demonstrated to increase early RPE precursor markers, while ABASCs showed a raise in retinal precursor marker expression. Subretinal transplantation of OASCs in a mouse model of retinal degeneration led to restoration of the RPE layer while transplantation of ABASCs resulted in a significant restoration of the photoreceptor layer. Taken together, we demonstrated a lineage-specific therapeutic effect for either OASCs or ABASCs in retinal regeneration.

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.

Retina and Nerve Fiber Layer Thickness in Eyes with Thyroid-Associated Ophthalmopathy.

BACKGROUND: Thyroid-associated ophthalmopathy (TAO) is an inflammatory disease that affects the thyroid gland and the eye orbit. Of patients with TAO, 3%-5% have severe sight-threatening disease due to optic neuropathy Optical coherence tomography (OCT), the non-invasive imaging technology that yields high-resolution cross-sectional images of the retina, provides qualitative and quantitative data on the retina. OBJECTIVES: To apply this technique to quantitatively assess retinal nerve fiber layer (RNFL) and macular ring thicknesses in healthy subjects and in patients with TAO to determine their relationship to the severity of the orbital disease. METHODS: All patients in the ophthalmology clinic who were diagnosed with TAO and underwent OCT imaging as part of their ocular examination comprised the study group, and healthy patients who volunteered to undergo OCT examination served as controls. Results of the complete ophthalmologic examination and OCT findings were collected from medical files, including the thickness of the RNFL and the macula. RESULTS: The study comprised 21 patients and 41 healthy controls. TAO patients exhibited RNFL thickening and inner macula thinning compared to healthy subjects. Mean RNFL thickness was correlated with the severity of the orbital disease. CONCLUSIONS: The OCT findings suggest that the retina is involved in TAO, probably as early as the subclinical stage. This highlights the ability of OCT to identify retinal changes earlier and far more accurately than is detected today, enabling earlier diagnosis and more timely treatment to prevent severe visual sequelae.

Extraocular muscle damage from dental implant penetration to the orbit.

PURPOSE: To demonstrate an unusual case of orbital trauma due to dental surgery complication. OBSERVATIONS: An elderly patient who underwent dental implantation to the zygomatic bone was hospitalized in the ophthalmology department with impaired abduction of her right eye, also evident on ocular examination. Head computed tomography demonstrated damage to the lateral rectus and to the inferior oblique muscles. Clinical assessment determined these muscles could not be repaired and reattached. The extent of irreversible damage in the patient was permanent limitation in movement of her affected eye with subsequent strabismus. CONCLUSIONS AND IMPORTANCE: Accurate pre-operative planning of dental zygomatic implant insertion, as well as selecting the size and direction of the implant, are imperative. Moreover, performing surgery in multidisciplinary centers with oculofacial plastic surgeons in such cases, may reduce risk of this complication, make it a safer procedure, and allow immediate treatment when required.

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.

The prevalence of glaucoma in patients undergoing surgery for eyelid entropion or ectropion.

PURPOSE AND DESIGN: The aim of this study was to establish the prevalence of known glaucoma in patients undergoing ectropion or entropion surgical repair. In this study, retrospective review of case series was performed. PARTICIPANTS: All patients who underwent ectropion or entropion surgery in a tertiary medical center between 2007 and 2014 were included. The etiology of eyelid malpositioning was involutional or cicatricial. METHODS: The medical files of the study participants were reviewed for the presence and type of glaucoma, medical treatment, duration of treatment, and the amount of drops per day. These data were compared to a matched control group of 101 patients who underwent blepharoplasty for dermatochalasis in the same department during the same period. MAIN OUTCOME MEASURE: In this study, the prevalence of glaucoma in individuals with ectropion or entropion was the main outcome measure. RESULTS: A total of 227 patients (57% men, mean age: 79.2 years) who underwent ectropion or entropion surgery comprised the study group and 101 patients who underwent upper blepharoplasty for dermatochalasis comprised the control group. Compared to four patients in the control group (4%, P=0.01), 30 of the study patients (13.2%) had coexisting glaucoma. Of 30 glaucomatous patients, 25 had primary open-angle glaucoma for a mean duration of 10.3 years. The glaucomatous patients were treated with an average of 2.7 antiglaucoma medications. CONCLUSION: An increased prevalence of known glaucoma in patients undergoing ectropion or entropion repair surgery was found. This observation may indicate that the chronic usage of topical anti-glaucoma eyedrops may lead to an increased risk of developing eyelid malpositions, especially in elderly patients.

A case report of ophthalmic artery emboli secondary to Calcium Hydroxylapatite filler injection for nose augmentation- long-term outcome.

BACKGROUND: Filler injection for face augmentation is a common cosmetic procedure in the last decades, in our case report we describe long-term outcomes of a devastating complication of ophthalmic artery emboli following Calcium Hydroxylapatite filler injection to the nose bridge. CASE PRESENTATION: A healthy 24-year-old women received a Calcium Hydroxylapatite filler injection to her nose bridge for the correction of nose asymmetry 8 years post rhinoplasty. She developed sudden right eye ocular pain and visual disturbances. Visual acuity was 20/20 in both eyes and visual field in the right eye showed inferior arch with fixation sparing and supero-temporal central scotoma. Examination revealed marked periorbital edema and hematoma, ptosis, ocular movements limitation, an infero-temporal branch retinal artery occlusion and multiple choroidal emboli. Eighteen months post initial presentation ptosis and eye movements returned normal and choroidal emboli absorbed almost completely. However, visual acuity declined to 20/60, visual field showed severe progressive deterioration with a central and supero-nasal field remnant and the optic disc became pallor. CONCLUSION: Cosmetic injection of calcium hydroxylapatite to the nose bridge can result in arterial emboli to the ophthalmic system with optic nerve, retinal and choroidal involvement causing long term severe visual acuity and visual field impairment.

Bisphosphonate-Induced Orbital Inflammation: A Case Series and Review.

INTRODUCTION: To present a series of patients with bisphosphonate induced orbital inflammation, and to review the clinical presentation, radiological features, treatment options and outcomes. METHODS: We present a multicentre, retrospective case series review of patients with a clinico-radiological diagnosis of bisphosphonate induced orbital inflammation and review all the reported cases of this complication in the literature. RESULTS: Four new patients with bisphosphonate induced orbital inflammation were added to the 25 cases in the literature. Intravenous zoledronate was the commonest precipitant (22/29, 75.9%) and inflammation occurred 1-28 (mean 3) days post-infusion. Orbital imaging identified orbital inflammation in 22/29 cases and extra-ocular muscle enlargement in 8/29. Five patients presented with reduced vision of which one - with anterior ischaemic optic neuropathy - did not resolve. The vision resolved in all except one patient, with most requiring steroid treatment. CONCLUSIONS: Bisphosphonates have a pro-inflammatory effect, which can precipitate orbital inflammation. This rare, but potentially serious complication of bisphosphonate treatment should be considered by clinicians using bisphosphonate treatment and by ophthalmologists seeing patients with orbital inflammatory disease.