Faculty Bibliography

PURPOSE/OBJECTIVE:To evaluate the association of risk of obstructive sleep apnea (OSA) and thyroid eye disease-compressive optic neuropathy (TED-CON). METHODS:The authors performed a retrospective observational study. All TED patients evaluated by the principal investigator over the past 5 years were screened with the snoring tired observed pressure (STOP)-Bang questionnaire to assess their risk for OSA. Patients were grouped into 2 age-matched cohorts based on the presence (TED-CON) or absence of CON. The groups were then compared using chi-square analysis for binary variables and Student t test for continuous variables. RESULTS:Three hundred twenty-six patients were identified to have TED. Of those, 109 were enrolled in the study. The prevalence of high risk of OSA was significantly higher in the TED-CON (59.2%) when compared with the noncompressive TED group (32.8%; p = 0.006). CONCLUSIONS:Obstructive sleep apnea and TED have each been independently associated with elevated serologic and tissue inflammatory mediators. The systemic inflammation associated with OSA has been implicated in the pathogenesis of disease states aggravated by untreated OSA. Effective treatment of OSA decreases the levels of circulating inflammatory mediators. Currently, smoking is the only known modifiable risk factor in TED. There is evidence to implicate the pathologic elevation of inflammatory cytokines in the mechanism of smoking on TED. This preliminary investigation reveals a significantly greater prevalence of OSA risk factors among patients with TED-CON, suggesting that this may be another modifiable risk factor associated with TED. Based on screening with the STOP-Bang questionnaire, there is a higher percentage of patients at high risk of OSA with TED with CON than with TED without CON.

A 15-month-old male was referred for biopsy of presumed rhabdomyosarcoma in the setting of rapidly progressing left-sided proptosis. Examination revealed left periorbital edema and left hypoglobus. MRI revealed a soft-tissue density mass within the left lateral retrobulbar space. Several days later, he developed acute periorbital ecchymosis and increasing edema. With high suspicion for a vascular lesion, a CT scan was performed with dynamic arterial and venous imaging. Central filling was noted in the lateral retrobulbar component with increased enhancement on delayed venous imaging in the middle cranial fossa component favoring the diagnosis of a low-flow orbital venous malformation. In the setting of spontaneous orbital hemorrhage and risk of future vision loss, the decision was made to proceed with a combined neurosurgical approach treating the intracranial component and debulking the orbital component. This case highlights the importance of thorough radiographic evaluation prior to proceeding with a surgical procedure in the appropriate clinical context.

Orbital infection can be caused by numerous pathogens, and accurate diagnosis informs appropriate therapy. The authors report a case of a 78-year-old man with well-controlled diabetes mellitus and recurrent sino-orbital infection following multiple surgical procedures with negative microbiologic results. This case presented a diagnostic and treatment challenge and was aided by the use of internal transcribed spacer sequencing for pathogen identification. The fungal pathogen, Tilletiopsis minor, has not previously been described as a human pathogen in the sinus and orbit. This report describes a novel orbital pathogen and highlights the importance of diagnostic diligence and utilizing internal transcribed spacer sequencing in the workup of atypical orbital infection.

Dermoid cysts are histologically defined as surface epithelium encapsulating an inner lumen. They are well described in the literature as discrete, single masses, either circumscribed or dumbbell-shaped, with or without a longstanding fistula. Chronic granulomatous inflammation is often a feature of dermoid cysts, contributing to local soft tissue and bony destruction. Isolated multicystic dermoids are not well described. We present a case of a multilobular dermoid characterized both radiographically and histopathologically. These findings may be attributed to repeated rupture and reformation of the dermoid cyst. When possible, our experience favours early excision of orbital dermoid cysts to minimize morbidity.

PURPOSE/OBJECTIVE:Dermatofibromas are common cutaneous lesions, but rarely occur in the eyelid skin. The reason for the low incidence in the palpebral skin has not been elucidated. In this study, we analyze the histopathologic features of an illustrative case of dermatofibroma and review previously published cases to determine whether eyelid dermatofibroma develops differently from the prototypical dermatofibroma. METHODS:Histopathologic analysis of a new illustrative case of eyelid dermatofibroma and retrospective review of published cases. RESULTS:The distinguishing features of the illustrative lesion included a rounder gross appearance, nonacanthotic epithelium, basophilic staining, cellular character, and a paucity of "collagen trapping." These features deviated from the typical features associated with classic dermatofibroma. Review of the 11 previously published cases of eyelid dermatofibroma revealed that they were more similar in appearance to the illustrative lesion than to classic dermatofibroma. DISCUSSION/CONCLUSIONS:The rarity and histological deviations of the eyelid dermatofibroma suggest that the dermal substrate from which the lesion develops differs from that of the classic dermatofibroma. This difference may be explained microanatomically based on the fact that the dermis of the eyelid is predominantly papillary, whereas the dermis of extrapalpebral skin where dermatofibromas are more common is predominantly reticular. CONCLUSIONS:Although related, eyelid dermatofibromas appear to be histologically distinct from classic dermatofibromas, owing to the unique dermal composition of the site of origin.

PURPOSE/OBJECTIVE:Diagnosing thyroid eye disease-compressive optic neuropathy (TED-CON) is challenging, particularly in cases lacking a relative afferent pupillary defect. Large case series of TED-CON patients and accessible diagnostic tools are lacking in the current literature. This study aims to create a mathematical formula that accurately predicts the presence or absence of CON based on the most salient clinical measures of optic neuropathy. METHODS:A retrospective case series compares 108 patients (216 orbits) with either unilateral or bilateral TED-CON and 41 age-matched patients (82 orbits) with noncompressive TED. Utilizing clinical variables assessing optic nerve function and/or risk of compressive disease, and with the aid of generalized linear regression modeling, the authors create a mathematical formula that weighs the relative contribution of each clinical variable in the overall prediction of CON. RESULTS:Data from 213 orbits in 110 patients derived the formula: y = -0.69 + 2.58 × (afferent pupillary defect) - 0.31 × (summed limitation of ductions) - 0.2 × (mean deviation on Humphrey visual field testing) - 0.02 × (% color plates). This accurately predicted the presence of CON (y > 0) versus non-CON (y < 0) in 82% of cases with 83% sensitivity and 81% specificity. When there was no relative afferent pupillary defect, which was the case in 63% of CON orbits, the formula correctly predicted CON in 78% of orbits with 73% sensitivity and 83% specificity. CONCLUSIONS:The authors developed a mathematical formula, the Columbia TED-CON Formula (CTD Formula), that can help guide clinicians in accurately diagnosing TED-CON, particularly in the presence of bilateral disease and when no relative afferent pupillary defect is present.

PURPOSE/OBJECTIVE:To critically review the published literature on orbital radiotherapy as a treatment modality for thyroid eye disease (TED). METHODS:A systematic review and analysis of the relevant published literature was performed. RESULTS:Thyroid eye disease is an autoimmune condition that is amenable to treatments that modulate the immune response, including orbital radiotherapy (ORT). Ideal candidates for ORT are patients in the early, active phase of TED with moderate to severe, or rapidly progressive, disease, including patients with significant motility deficits and compressive optic neuropathy. Patients with progressive strabismus may also benefit. Patients with mild or inactive disease will not benefit from ORT when compared with the natural history of the disease. Orbital radiotherapy should generally be used in conjunction with corticosteroid therapy, with response to corticosteroids demonstrating the immunomodulatory therapeutic potential of ORT. When treating TED-compressive optic neuropathy, ORT may help obviate the need for urgent surgical decompression, or postpone it until the stable, inactive phase of the disease. Orbital radiotherapy treatment doses should approach 20 Gy in most cases, but lower doses may be considered in younger patients without significant dysmotility. The safety profile of ORT is well established, and side effects are minimal in appropriately selected patients. CONCLUSIONS:Radiotherapy is a safe and effective treatment for active TED in appropriately selected patients.

PURPOSE/OBJECTIVE:Despite the paucity of supporting data, it has generally been held that proptosis in thyroid eye disease (TED) may provide relative protection from compressive optic neuropathy (CON) by producing spontaneous decompression. The objective of this study was to investigate this phenomenon in patients with bilateral TED-CON. METHODS:We retrospectively reviewed the charts of 67 patients (134 orbits) with bilateral TED-CON at Columbia-Presbyterian Medical Center. Significant asymmetric proptosis (Hertel) was defined as ≥ 2 mm. Significant asymmetric CON was defined first, as the presence of an relative afferent pupillary defect. Those without an relative afferent pupillary defect were evaluated according to the TED-CON formula y = -0.69 - 0.31 × (motility) - 0.2 × (mean deviation) - 0.02 × (color vision) as previously established for the diagnosis of TED-CON. A difference in the formula result ≥ 1.0 between eyes was considered significant. Patients were then divided into 4 groups. RESULTS:Forty-one of 67 patients demonstrated asymmetric CON (29 by relative afferent pupillary defect, 12 by formula). Twenty-one of 67 patients demonstrated asymmetric proptosis. Only 5 of 12 (41.6%) of the patients who had both asymmetric proptosis and asymmetric CON (group 1) showed greater proptosis in the eye with less CON. Twenty-nine patients (group 2) showed that asymmetric CON occurred despite symmetrical proptosis. Seventeen patients (group 3), showed the inverse, that asymmetric differences in proptosis occurred with symmetrical CON. CONCLUSION/CONCLUSIONS:Despite commonly held assumptions, our results suggest that greater proptosis is not associated with improved TED-CON. Combining groups 1 to 3-all of which demonstrated asymmetry of either proptosis, CON, or both-91.4% of patients did not show a relationship between greater proptosis and improved CON.

PURPOSE/OBJECTIVE:To evaluate the improvement in primary and eccentric gaze ocular alignment in thyroid eye disease (TED) patients undergoing horizontal strabismus surgery with Tenon's recession. METHODS:This is an Institutional Review Board-approved retrospective analysis of TED patients undergoing horizontal strabismus surgery for esotropia. The study included all patients from 2007 to 2016 operated on by a single surgeon at Columbia University Medical Center. Surgical success was defined as the ability to fuse at both near and distance either without prismatic correction or with less than 10 prism diopters (PD) of correction. Measurements of ocular alignment were also made in eccentric fields of gaze. This study was Health Insurance Portability and Accountability Act compliant with protection of individually identifiable information. RESULTS:Thirty-eight patients with TED and restrictive horizontal strabismus underwent unilateral or bilateral medial rectus recession to relieve diplopia. All patients underwent Tenon's recession with dissection of Tenon's from the overlying conjunctiva permitting it to retract into the orbit. Overall the success rate was 87% with a reoperation rate of 7.9%. The improvement in horizontal deviation in both primary and eccentric gaze was statistically significant (p < 0.001). The change in vertical deviation in the 5 cardinal positions of gaze was not statistically significant. The postoperative change in vertical deviation was not proportional to the preoperative horizontal deviation or the amount of horizontal recession. CONCLUSIONS:Due to the preoperative incomitance of ocular deviations in TED patients, persistent postoperative eccentric misalignment is expected. The addition of Tenon's recession to TED-horizontal strabismus surgery led to statistically significant improvement in ocular alignment in both primary and eccentric gaze. This is the first study of TED-strabismus surgery to analyze the postoperative results in positions outside of primary and reading gaze. The authors postulate that the release of scar tissue by the addition of Tenon's recession contributes to these improvements.