Modified Reverse Hatchet Flap for Ablepharon-Macrostomia Syndrome.

Ablepharon-macrostomia syndrome is a rare disorder characterized by TWIST2 mutations and anterior lamellar dysgenesis. Timely intervention is critical to prevent exposure keratopathy, corneal ulceration, and permanent vision loss. We report a novel approach to multiplanar eyelid reconstruction in ablepharon-macrostomia syndrome involving use of a modified reverse hatchet flap in 1 lower eyelid along with division at the eyelid margin, recession of the eyelid retractors in conjunction with preputial skin grafting for anterior lamellar restoration in the other 3 eyelids.

Treatment of Thyroid Eye Disease-Associated Ophthalmopathy and Myopathy With Intraorbital Injection of 5-Fluorouracil and Triamcinolone Acetonide.

PURPOSE: The authors report a technique of local application of anti-metabolite and corticosteroid mixture in the orbit for treatment of thyroid orbitopathy with moderate-severe inflammation and muscle involvement. METHODS: Patients of one orbital surgeon seen between March 2019 and May 2020 with active thyroid eye disease and restrictive strabismus were considered for local treatment of the myopathic component of the disease. A mixture of 1 ml 5-FU 50 mg/ml, 0.25 ml triamcinolone 40 mg/ml, and 1 ml lidocaine 2% is injected through the skin using a 25-gauge, 1.5-inch needle into the orbit adjacent to the affected extraocular muscle. Six patients were treated in the outpatient setting and 3 patients have been treated with this intervention intraoperatively at the time of orbital decompression. One was treated with the mixture reconstituted with hyaluronic acid (Healon GV) to address postoperative medial rectus fibrosis to the medial wall, this mixture was applied topically in the operative field and not injected. RESULTS: All patients had subjective improvement in the eye movement limitation and 2 patients had a change in motility on exam that was temporally correlated to injections. One patient did not disclose high-dose aspirin intake before injection and experienced a retrobulbar hemorrhage immediately following injection which was successfully treated. No complications were noted as a result of the medication itself. DISCUSSION: The combination of 5-fluorouracil and triamcinolone acetonide for orbital treatment may be a useful adjunct in treating patients with ongoing inflammatory activity, both in the office and in the operating room. The novel combination may optimize ophthalmic outcomes, modifying disease course in some patients.

Transcutaneous retrobulbar amphotericin B for rhino-orbital-cerebral mucormycosis: a multi-center retrospective comparative study.

PURPOSE: To assess whether transcutaneous retrobulbar amphotericin B injections (TRAMB) reduce exenteration rate without increasing mortality in rhino-orbital-cerebral mucormycosis (ROCM). METHODS: In this retrospective case-control study, 46 patients (51 eyes) with biopsy-proven ROCM were evaluated at 9 tertiary care institutions from 1998 to 2021. Patients were stratified by radiographic evidence of local orbital versus extensive involvement at presentation. Extensive involvement was defined by MRI or CT evidence of abnormal or loss of contrast enhancement of the orbital apex with or without cavernous sinus, bilateral orbital, or intracranial extension. Cases (+TRAMB) received TRAMB as adjunctive therapy while controls (-TRAMB) did not. Patient survival, globe survival, and vision/motility loss were compared between +TRAMB and -TRAMB groups. A generalized linear mixed effects model including demographic and clinical covariates was used to evaluate the impact of TRAMB on orbital exenteration and disease-specific mortality. RESULTS: Among eyes with local orbital involvement, exenteration was significantly lower in the +TRAMB group (1/8) versus -TRAMB (8/14) (p = 0.04). No significant difference in mortality was observed between the ±TRAMB groups. Among eyes with extensive involvement, there was no significant difference in exenteration or mortality rates between the ±TRAMB groups. Across all eyes, the number of TRAMB injections correlated with a statistically significant decreased rate of exenteration (p = 0.048); there was no correlation with mortality. CONCLUSIONS: Patients with ROCM with local orbital involvement treated with adjunctive TRAMB demonstrated a lower exenteration rate and no increased risk of mortality. For extensive involvement, adjunctive TRAMB does not improve or worsen these outcomes.

A Pilot Nonrandomized Controlled Trial Examining the Use of Artificial Tears on the Radioactivity of Tears After Radioactive Iodine Treatment for Thyroid Cancer.

Background: Nasolacrimal duct obstruction (NLDO) is an adverse effect of high dose radioactive iodine (RAI) therapy for thyroid carcinoma. There are currently no established preventive measures. This study assesses whether preservative free artificial tears (PFATs) can decrease the 131I sodium iodide (131I) activity in the tears of patients following RAI therapy for thyroid carcinoma, and potentially serve as a preventive measure for RAI-associated NLDO. Methods: This non-randomized prospective pilot clinical trial recruited contact-lens wearing patients undergoing RAI therapy for thyroid cancer to self-administer PFATs into the right eye for four days starting on the day of RAI ingestion. Left eyes were the controls. While wearing contacts, patients self-administered PFATs per the following-Day 1: every 15 minutes for 2 hours, then every 30 minutes until bedtime, day 2: every hour for at least 12 hours, day 3: four times a day, and day 4: two times a day. Contact lenses were changed daily, and all lenses were collected one week later. Levels of 131I activity were measured by a well counter, decay-corrected, and converted to units of becquerel. Statistical analyses were performed to compare the 131I activities of the experimental and control eyes. Results: Sixteen eyes of eight patients treated with an average of 145.7 mCi (range 108-159) of 131I for papillary thyroid cancer were included. On day 1, artificial tears decreased the geometric mean 131I activity by 26% in the experimental eyes (p = 0.008). Artificial tears also decreased the geometric mean area under the curve over four days by 23% (p = 0.002). Conclusions: 131I is present in the tears following RAI therapy for thyroid carcinoma. Frequent PFATs starting on the day of RAI ingestion may decrease the level of 131I in the tears. This finding could have implications for lowering the risk of NLDO. Future multi-center clinical trials are needed to determine whether the use of artificial tears after RAI therapy may decrease the risk of NLDO. Clinical Trial Registration: NCT04327999.

Magnetic Resonance Imaging in the Management of Thyroid Eye Disease: A Systematic Review.

PURPOSE: MRI may potentially detect active thyroid eye disease prior to elevation of clinical activity score. We aimed to systematically review the existing literature pertaining to MRI thyroid eye disease and to assess the role of MRI in the diagnosis of thyroid eye disease. METHODS: A Population, Intervention, Comparison, Outcome/Preferred Reporting Items for Systematic Reviews and Meta-Analyses selection criteria was applied to identify studies for inclusion published between the years 2000 and 2023. RESULTS: Twenty-four articles were identified for inclusion in the systematic review. All included studies utilized MRI as the imaging modality. MRI sequences used included T2-weighted imaging in 87.5%, T1-weighted imaging in 54.2%, diffusion-weighted imaging in 20.8%, and short tau inversion recovery in 16.7%. The most common parameters quantified were signal intensity ratio in 10 studies (41.7%) and T2-relaxation time in 8 studies (33.3%). Signal intensity ratio and T2-relaxation time were shown to correlate with clinical activity score and identify the phase of the disease. CONCLUSIONS: MRI has untapped potential for further elucidating the highly complex biological processes in thyroid eye disease. As we move away from clinical activity score as a predictor of response to biologic therapy, MRI may prove more important than ever in the risk-benefit analysis around the use of immunomodulators.

Sebaceous carcinoma masquerading as ocular mucous membrane pemphigoid.

Sebaceous carcinoma is a known mimicker of benign conditions, leading to frequent delays in diagnosis and proper treatment. We present two patients with chronic cicatrizing conjunctivitis initially diagnosed as ocular mucous membrane pemphigoid (MMP) and later found to have sebaceous carcinoma. Both patients presented with unilateral conjunctivitis that failed to improve with topical and systemic therapy, eventually developing fornix foreshortening and extensive symblepharon. Case 1 was diagnosed with ocular MMP based on clinical features alone, while Case 2 was diagnosed with biopsy-negative disease. Months to years later, both patients developed lid lesions found to be sebaceous carcinoma and underwent exenteration. As diagnosis and treatment of ocular MMP without positive direct immunofluorescence testing becomes increasingly accepted, clinicians should consider sebaceous carcinoma as the initial diagnosis or as a developing phenomenon during immunosuppression in the setting of chronic inflammation. A low threshold for repeat biopsy should be maintained.

Misdiagnosis of fungal infections of the orbit.

OBJECTIVE: To evaluate the accuracy of the initial diagnosis in the case of fungal infections of the orbit and identify factors that may influence patient outcomes. METHODS: An institutional review board-approved retrospective chart review was conducted across 2 large academic centres to identify cases of fungal infections involving the orbit from January 1, 1998, to November 15, 2019. Data collected included patient demographics, past medical history, examination findings, diagnosis, treatment, imaging, and outcomes. RESULTS: Fifty cases of fungal infection involving the orbit were identified. Of these, 33 (66.0%) were initially misdiagnosed as nonfungal diagnoses. Sixteen patients (32.0%) received multiple initial diagnoses. The most common diagnoses on presentation were bacterial cellulitis (n = 12 of 50; 24.0%) and bacterial sinusitis (n = 12 of 50; 24.0%). These were followed by vascular and orbital inflammatory conditions (n = 9 of 50; 18.0%): 5 patients (10.0%) were clinically diagnosed with giant cell arteritis, 3 (6.0%) with nonspecific orbital inflammation, and 1 (2.0%) with optic neuritis. In this subset of patients, 77.8% (n = 7 of 9) were treated initially with systemic steroids. Additional initial diagnoses included neoplastic mass lesions, mucocele, dacryocystitis, cavernous sinus thrombosis, hemorrhage, tick-borne illness, allergic rhinitis, and allergic conjunctivitis. Misdiagnosis was significantly correlated with involvement of the masticator space on imaging (p = 0.04). CONCLUSION: Fungal infections of the orbit are misdiagnosed in 2 of 3 cases. Nearly 15% of patients who are later diagnosed with fungal disease of the orbit were initially treated with systemic steroids. Misdiagnosis is more frequent when the masticator space is involved.

Attitudes and Awareness of Cornea Specialists and Oculoplastic Surgeons toward Methicillin-Resistant Staphylococcus aureus Decolonization.

Background: Methicillin-resistant Staphylococcus aureus (MRSA) decolonization is widely utilized in many medical subspecialities to reduce surgical site infections, but routine ophthalmic implementation has been limited. The aim of this study was to investigate the attitudes and actual practice of corneal specialists and oculoplastic surgeons toward MRSA decolonization as a preventive measure in ophthalmic surgery. Materials and Methods: A web-based survey was sent to cornea specialists and oculoplastic surgeons to assess their knowledge, beliefs, and practices regarding MRSA prophylaxis and the use of MRSA decolonization to prevent post-operative infections. Results: A total of 180 surgeons participated in this study: 71% of respondents agreed that MRSA colonization plays a role in post-operative infection of the eye and adnexal structures; 65% stated that MRSA decolonization could help prevent MRSA infection. Although 41% of respondents would change their management in response to a positive pre-operative MRSA screening result, only 18% performed pre-operative screening. Seventeen percent of respondents indicated that they offer pre-operative decolonization for MRSA-positive patients; the most frequently applied technique was the use of nasal antibiotic agents such as mupirocin, followed by antiseptic baths. Peri-operative MRSA prophylaxis was used by 18% of respondents; pre-operative MRSA decolonization was used in conjunction by 8.5 % of respondents. Conclusions: Although MRSA decolonization has been validated in fields outside of ophthalmology, there has not been widespread adoption of this practice among oculoplastic surgeons and cornea specialists. Prospective MRSA decolonization ophthalmic studies are necessary if evidence-based management guidelines are to be developed.

Blue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate.

A male neonate presented with an isolated congenital right orbital vascular malformation without other mucocutaneous lesions or signs/symptoms of systemic disease. The orbital mass was progressive, causing amblyogenic ptosis by 6 months of age. Over 11 years, the patient underwent 4 orbital mass resections, 3 embolizations, and even a craniotomy with mass resection for an intraorbital meningoencephalocele secondary to orbital bony erosion. A diagnosis of blue rubber bleb nevus syndrome was made at age 7 when the patient developed a tender vascular lesion on his foot and was found to have other mucocutaneous lesions of the extremities and gastrointestinal tract. This is the first pediatric case of such an aggressive orbital vascular malformation from blue rubber bleb nevus syndrome causing neonatal amblyogenic ptosis and intraorbital meningoencephalocele in childhood. It is the second report of a patient presenting with an isolated orbital vascular malformation without other manifestations of blue rubber bleb nevus syndrome, leading to his delayed diagnosis.

MRSA Decolonization and the Eye: A Potential New Tool for Ophthalmologists.

PURPOSE: Methicillin-resistant Staphylococcus aureus (MRSA) is an opportunistic pathogen that can cause vision-threatening infections of the ocular surface, orbit, and periorbital structures. MRSA decolonization is a widespread technique employed outside of ophthalmology to reduce MRSA transmission and infection rates. Herein we explore whether decolonization protocols have a place in ophthalmology for combatting ocular MRSA infections. METHODS: We conducted a focused review of the MRSA decolonization literature using PubMed and Cochrane databases to identify key studies in ophthalmology and the broader medical literature. RESULTS: We summarize the relevance of the recent literature from an ophthalmic perspective, focusing on the clinical evidence supporting pre-operative MRSA decolonization. We also discuss current real-world decolonization practices, existing challenges, and propose recommendations for future opportunities to address these issues. CONCLUSION: Incorporating pre-operative MRSA decolonization approaches discussed herein may offer a new frontier for enhancing the ophthalmic care of patients colonized with MRSA.

Association of Age-adjusted Charlson Comorbidity Index With Orbital Fungal Disease Outcomes.

PURPOSE: To determine whether the age-adjusted Charlson comorbidity index (age-CCI) in sino-orbital fungal disease patients correlates with disease-specific mortality. METHODS: Hospital billing systems at 2 academic institutions were queried for patients with ICD-9, ICD-10, and CPT codes used in fungal disease who also had orbital disease and significant visual loss. Thirty-two patients at Institution A and 18 patients at Institution B met the inclusion criteria of microbiologic or pathologic confirmation of fungal infection and completion of inpatient ophthalmology evaluation. Patients without radiographic abnormality in the sinus or orbit were excluded. Demographic, diagnostic, treatment, and outcome variables were recorded. Our primary outcome was death due to fungal disease. RESULTS: Of the 50 medical records examined, 44 patients met the criteria for fungal-related death outcome on multivariate analysis. The regression coefficient for age-CCI and fungal-related mortality was 0.242 (95% CI, 0.012-0.779) with a p value of 0.038. CONCLUSIONS: Age-CCI is significantly associated with fungal-related mortality. This relationship remains significant when controlling for 5 covariates of fungal organism phylum, presence or absence of CNS disease, exenteration, local treatment use, and presence or absence of an immunosuppressive diagnosis. Age-CCI shows promise as a clinical and research tool in the evaluation of invasive fungal disease involving the orbit.

Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2.

Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Mosaic expression of TWIST2 variants is correlated with a less severe phenotype than that reported for the typical expression of TWIST2 variants associated with BSS or AMS. Abnormal development of the anterior lamella appears to be a common feature in all cases of AMS with mosaic expression. Here, we describe the phenotype of a patient with mosaic expression of a TWIST2 mutation that is typically associated with AMS. We additionally describe the surgical approach employed in the treatment of this patient.

Use of an Ultrasonic Aspirator in Removal of an Orbital Rim Hemangioma.

Intraosseous hemangiomas are rare bony neoplasms that infrequently develop in the calvarium or facial bones. Due to their highly vascular nature, biopsy or resection of these tumors can present a surgical challenge, with reports of significant blood loss during tumor resection. Traditional surgical resection of intraosseous hemangiomas often includes the use of high speed oscillating or sagittal saws. Ultrasonic aspirators, which spare adjacent soft-tissue structures and minimize blood loss, have been successfully used in resection of firm soft tissue masses of the orbit; however, this technology has not been demonstrated in the treatment of a vascular tumor in the orbit. The authors present the case of a 37-year-old woman who presented with an intraosseous hemangioma at the left inferior orbital rim and maxilla; the mass was successfully resected with the aid of a Sonopet Ultrasonic Aspirator bone knife. The knife allowed for simultaneous emulsification and cautery of the bone encasing the mass with low risk to sensitive surrounding tissue.

Blunderbuss: Ocular and Orbital Injuries Due to Muzzle-Loading Firearms.

PURPOSE: Injury to the eye and/or orbital and adnexal structures associated with antiquated muzzle-loading firearms has not, to our knowledge, been characterized with the exception of a single case report. METHODS: A retrospective chart review of 7 patients treated at Vanderbilt University Medical Center from 2003 to 2017 who sustained traumatic injuries to the ocular and/or orbital structures secondary to the discharge of muzzle-loading firearms. The study was approved by the Vanderbilt Institutional Review Board. RESULTS: In 6/7 cases, injuries occurred secondary to the muzzle-loading firearm exploding due to dysfunction or misuse. Foreign material deriving from the firearm was retained in 3/7 patients. Initial examination of the orbit and adnexa revealed 5/7 individuals sustaining orbital fractures and 6/7 with facial lacerations (including 2 with eyelid lacerations); none had evidence of a lacrimal duct injury. Three patients suffered globe injuries (1 closed-globe and 2 open-globe). Visual acuity at last follow-up was ≥20/20 in 12/14 eyes examined. Surgical intervention was required in the treatment of 4/7 individuals (including 3/7 requiring intervention for sustained orbital fractures). No individuals were wearing eye protection at the time of injury. All individuals survived their injuries. CONCLUSIONS: The operation of muzzle-loading firearms poses a unique risk of injury to the operator. The resultant injuries in this case series were primarily due to the explosion of the firearm, which subsequently appear similar to orbital and ocular blast injuries caused by explosive weapons. Orbital injuries and more potentially more devastating ocular injuries may have been prevented by protective eyewear.

Correlation of Automated Computed Tomography Volumetric Analysis Metrics With Motility Disturbances in Thyroid Eye Disease.

PURPOSE: The authors sought to examine relationships between CT metrics derived via an automated method and clinical parameters of extraocular muscle changes in thyroid eye disease (TED). METHODS: CT images of 204 orbits in the setting of TED were analyzed with an automated segmentation tool developed at the institution. Labels were applied to orbital structures of interest on the study images, which were then registered against a previously established atlas of manually indexed orbits derived from 35 healthy individuals. Point-wise correspondences between study and atlas images were then compared via a fusion algorithm to highlight metrics of interest where TED orbits differed from healthy orbits. RESULTS: Univariate analysis demonstrated several correlations between CT metrics and clinical data. Metrics pertaining to the extraocular muscles-including average diameter, maximum diameter, and muscle volume-were strongly correlated (p < 0.05) with the presence of ocular motility deficits with regards to the superior, inferior, and lateral recti (with exception of superior rectus motility deficits being mildly correlated with muscle volume [p = 0.09]). Motility defects of the medial rectus were strongly correlated with muscle volume, and only weakly correlated with average and maximum muscle diameter. CONCLUSIONS: The novel method of automated imaging metrics may provide objective, rapid clinical information which may have utility in prevention and recognition of visual impairments in TED before they reach an advanced or irreversible stage and while they are able to be improved with immunomodulatory treatments.

Porcine Urinary Bladder Extracellular Matrix for Treatment of Periocular Skin Defects.

PURPOSE: To describe the experience of 4 oculoplastic surgeons with porcine bladder matrix for periocular anterior lamella and donor site skin defects either as stand-alone treatment or in conjunction with other reconstructive procedures. The authors hypothesized that defect size and location influence the requirement for additional matrix treatments or ancillary procedures. METHODS: Following the Institutional Review Board approval, the authors conducted a retrospective review of 17 patients treated with porcine bladder matrix at 2 oculoplastic practices between 2016 and 2018. Powdered matrix was applied to the skin defect and overlaid with a matrix sheet. Subsequent rounds of matrix treatment or other reconstructive procedures were performed as necessary. Defect size and location were correlated to the number of ancillary matrix treatments or surgical procedures via univariate analysis. RESULTS: Twenty-five sites (21 primary and 4 donor) in 17 individuals (8-95 years, M = 58.8 years, 10 males) were treated with porcine bladder matrix. All wounds healed successfully. Additional matrix treatments were administered at 5 sites. Ancillary procedures were performed for 7 sites. Upper lid involvement and larger defect size tended to require additional ancillary procedures (p = 0.006), while lower eyelid and other periocular defects required fewer procedures (p < 0.001). CONCLUSION: Porcine bladder matrices are useful adjuncts to healing periocular anterior lamella defects in various settings. Such repairs are useful in nonsurgical candidates, but must take into account varying levels of complexity based on lesion location. Smaller defects are more conducive to application of matrices as stand-alone treatment, while larger or upper eyelid defects often require additional procedures.

Surgical management of large bilateral epibulbar dermoids with autologous oral mucous membrane transplantation.

PURPOSE: To report the surgical management of extensive epibulbar dermoids with autologous oral mucous membrane transplantation. OBSERVATIONS: While rare, extensive dermoids that encroach upon the visual axis carry a poor prognosis. We report the case of a 7-week old premature male infant who presented with large bilateral epibulbar dermoids obscuring the visual axis. He was treated first with sequential bilateral optical iridectomies under the clearest corneal areas, followed several months later by sequential dermoid excision and amniotic membrane transplantation in each eye. He subsequently underwent autologous "simple" oral mucosal epithelial transplantation (SOMET) as well as strabismus surgery. Conclusions and Importance: Here we present the first case, to the best of our knowledge, of the use of SOMET in managing post-operative pseudopterygium following dermoid excision. To our knowledge it is the also the first application of this technique in a young pediatric patient. A good clinical outcome may be achieved with SOMET, which may offer a minimally invasive alternative to other traditional modalities.

Pediatric ocular surface disease associated with suspected abuse.

PURPOSE: To describe one of the largest case series of children whose ocular surface disease was strongly suspicious for nonaccidental injury (NAI). METHODS: This multicenter retrospective case series includes 4 patients whose presentations were concerning for anterior segment NAI. The history, examination, treatment, and outcomes of these patients is presented, along with a brief review of case reports in the literature. RESULTS: A broad spectrum of anterior segment findings was noted in our case series and in cases previously reported in the literature. NAI appears to be associated with bilateral and recurrent disease as well as improvement during hospitalization that is better than initially expected. CONCLUSIONS: Ocular surface NAI is a diagnosis of exclusion and necessitates a thorough history and examination. Clinician concern for ocular NAI should prompt examination or referral for signs of other bodily injuries, especially in young children. Siblings of patients who have received the diagnosis of NAI may also be at risk.