MEN 2B masquerading as chronic blepharitis and euryblepharon.

This is a retrospective case description of a single male patient found to have multiple endocrine neoplasia syndrome type 2B (MEN 2B). At the age of 14, he presented for evaluation of ocular irritation and eyelid thickening. Intraoperative assessment revealed mucosal lesions on the anterior dorsum of his tongue and biopsy of multiple eyelid lesions disclosed bilateral submucosal neuromas, leading to the diagnosis of MEN 2B. MEN 2B is a potentially life-threatening syndrome due to the risk of developing medullary thyroid carcinoma (MTC) and pheochromocytoma. The patient was found to have MTC requiring thyroidectomy. We hope to highlight the clinical and histopathologic findings of MEN 2B in an effort to emphasize the importance of its identification in the absence of a family history.

Dacryoadenitis due to gonococcal conjunctivitis complicated by corneal perforation.

Adnexal and periocular involvement in Neisseria gonorrhoeae (NG) infection is rare. This report describes the case of a patient with a delayed diagnosis of gonococcal dacryoadenitis with contiguous conjunctivitis and corneal involvement. She underwent extensive inpatient laboratory and infectious workup but rapidly progressed to corneal perforation requiring emergent penetrating keratoplasty prior to a positive culture confirming the diagnosis. To date, this is the first reported case of ophthalmologic NG infection with associated conjunctivitis, dacryoadenitis, and corneal perforation.

Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review.

BACKGROUND: Fraser syndrome is an autosomal recessive disorder characterized primarily by syndactyly, cryptophthalmos, urinary tract anomalies, ambiguous genitalia, and laryngeal anomalies. A 28-year-old man with Fraser syndrome presented with cryptophthalmos, microphthalmia, lacrimal system dysgenesis, and chronic sinusitis. OBJECTIVE: The patients' clinical condition and surgical treatment are described. A literature review was conducted, and articles relevant to the case are presented. METHODS: Case report. RESULTS: To our knowledge, this is the first published case report of endonasal management of dacryocystoceles in a Fraser syndrome patient. The patient was treated via endoscopic endonasal marsupialization and drainage. CONCLUSION: Fraser syndrome patients may initially present to many different specialties as the spectrum of clinical manifestations is broad. Physicians treating these patients should take a collaborative approach to surgical and medical management.

Solitary Extramedullary Plasmacytoma of the Orbital Apex and Dura Masquerading as Idiopathic Inflammation.

This is a retrospective case description of a single female patient found to have a primary solitary extramedullary plasmacytoma of the orbital apex and temporal/parietal dura. These monoclonal plasma cell neoplasms account for fewer than 5% of plasma cell neoplasms. Although most commonly found in the head and neck, orbital and dural solitary extramedullary plasmacytomas are extremely uncommon. The authors present a case of an extramedullary plasmacytoma involving both of these structures in a middle-age otherwise healthy female to highlight this rare entity and elucidate current treatment modalities and future considerations.

Sebaceous Carcinoma of the Ocular Region: The 2014 Professor Winifred Mao Lecture.

Sebaceous carcinoma is a malignancy arising in the periocular region that can lead to blindness and tumor-related metastases. This study is a review of published literature and personal experience. This malignancy can arise from the sebaceous units in the tarsus (meibomian glands), in association with the cilia (Zeis glands), in the brow, and in the caruncle. There is a tendency for diffuse intraepithelial growth (pagetoid spread) that can be clinically invisible. Detection before lymph node metastasis is critical. This malignancy often masquerades as chronic unilateral conjunctivitis or blepharitis, typically in older patients. Management includes a 2-step approach with step 1 focused on eyelid and conjunctival map biopsies to determine the full extent of solid deep tumor and pagetoid spread. After complete review of all biopsies, step 2 is performed using local resection for all deep tumor, cryotherapy to pagetoid disease, and reconstruction. In most cases, the posterior lamella of eyelid is sacrificed with tumor removal, whereas the anterior lamella of the eyelid can be saved. After removal and cryotherapy, immediate reconstruction, using clean instruments, with buccal membrane graft for the posterior lamella and skin flap for the anterior lamella, is developed. For persistent or recurrent pagetoid disease, cryotherapy, topical mitomycin C, or plaque radiotherapy is provided. Exenteration is sometimes necessary. Sebaceous carcinoma, if detected early, can be managed with carefully planned map biopsy to determine tumor extent, followed by local resection, cryotherapy, and eyelid reconstruction. Orbital exenteration is occasionally necessary.

Update on advanced imaging options for thyroid-associated orbitopathy.

Thyroid-associated orbitopathy (TAO) is a diverse spectrum of signs and symptoms that appears to have immunologic and pathologic causative factors as diverse as its clinical presentations. Lymphocytes, hormones, and cytokines affect orbital fibroblasts and other similar cells, which exert their effects on orbital tissues, including the extraocular muscles, orbital fat, and optic nerve. This complicated inflammatory cascade and the myriad of clinical findings that result contributes to the active phase of TAO. The distinction between the active and inactive phases of TAO is an important one, as the proper treatment will depend on the disease phase and degree thereof. Several clinical grading scales and scores have been established to help qualify and quantify the disease severity. Aiding clinical exam and acumen, proper and reproducible imaging of the orbit and ocular adnexa is incredibly important to the management of TAO. Orbital ultrasound, computed tomography, magnetic resonance imaging, and scintigraphy each have unique abilities, including quantifying orbital changes, assessing disease activity, correlating orbital findings with clinical changes, guiding appropriate treatment, and monitoring therapeutic responses. Further, study ease, accessibility, cost, sensitivity, specificity, reproducibility, and risks are all important considerations in picking the right test with which to diagnose and follow TAO. This analysis will provide a review of orbital imaging for TAO, including the mechanism of each imaging technique as well as their rationales, advantages, disadvantages, and utilities.

Wooden intraorbital foreign body injuries: clinical characteristics and outcomes of 23 patients.

PURPOSE: To describe the clinical characteristics, interventions, and visual outcomes of orbital injuries associated with wooden foreign bodies. METHODS: A retrospective case review of orbital injuries managed at Wills Eye Institute and Massachusetts Eye and Ear Infirmary was conducted between 1992 and 2006. RESULTS: The clinical course and management for a total of 23 intraorbital wooden foreign body injuries were reviewed. The distribution of wood included pencil (39%), tree branch/plant matter (35%), and other treated wood (26%). About half of the subjects (52%) presented with preoperative vision between 20/20 and 20/40. Almost all [corrected] of the subjects with preoperative vision between 20/20 to 20/40 retained vision in that range postoperatively (92%). [corrected] Time from injury to presentation was highly variable, ranging from 24 hours to 17 months (mean, 62 days; median, 3 days). Forty-three percent of subjects presented within 24 hours of injury. The site of foreign body found within the orbit was superior (26%; n = 6), medial 30% (n = 7), inferior (26%, n = 6), posterior (9%; n = 2), and lateral (4%; n = 1). Preliminary radiographic interpretation for foreign body was definite in 61% (n = 14), possible in 22% (n = 5), and absent in 13% (n = 3). CONCLUSIONS: Young men are at particularly high risk for wood intraorbital foreign body. There was a relatively equal distribution of wood type. The time from injury to presentation was variable, ranging from <1 day to over a year. Almost half of the subjects presented within 24 hours of injury. In patients with a known site of penetration, almost half occurred in the conjunctiva, notably without presence of eyelid laceration, emphasizing the need to check the conjunctiva and fornices closely. Preliminary radiographic readings often miss or are inconclusive in detecting the foreign body. The shape, location, serial examinations, and particularly the use of quantitative CT are extremely helpful in distinguishing retained wood foreign body from other low-density signals of air or fat.

Technique selection for orbital decompression: combined endoscopic and transconjunctival versus combined endoscopic and transantral approach.

Surgical orbital decompression is indicated for patients with compressive optic neuropathy, exposure keratopathy, an uncontrolled elevation of intraocular pressure, globe subluxation, and disfiguring proptosis secondary to Graves ophthalmopathy. Controversy exists, however, regarding the selection of surgical technique to achieve orbital decompression. We compared the results of our combined transnasal endoscopic and transconjunctival approach with those of our combined transnasal endoscopic and transantral approach to orbital decompression. We conducted a retrospective chart review of patients who had undergone medial- and inferior-wall orbital decompression from January 1994 through January 2004. During that time, 189 combined medial- and inferior-wall orbital decompressions were performed on 124 patients; 51 combined endoscopic and transantral decompressions were performed on 28 patients, and 138 combined endoscopic and transconjunctival decompressions were performed on 96 patients. Patient demographics and the degree of preoperative proptosis were statistically equal in the 2 groups. The incidence of optic neuropathy in the transantral group was significantly higher than the incidence in the entire group (p = 0.03), and the incidence of exposure keratopathy was significantly lower in the transantral group than in the entire group (p = 0.03). Postoperatively, the reduction in proptosis in the 2 groups was statistically equivalent, but the transconjunctival group had a significantly lower incidence of both infraorbital hypesthesia (p< 0.0001) and early rhinosinusitis (p = 0.008). Three cases of globe ptosis and 2 of infraorbital neuralgia occurred. No cases of visual loss, worsened optic neuropathy, diplopia in patients without preexisting diplopia, cerebrospinal fluid leak, significant epistaxis, or periorbital hematoma were noted. We conclude that combined endoscopic and transconjunctival orbital decompression offers equivalent efficacy with less postoperative infraorbital hypesthesia and early rhinosinusitis than does combined endoscopic and transantral orbital decompression.

Alveolar rhabdomyosarcoma presenting as an acute orbital mass in the medial rectus muscle.

Rhabdomyosarcoma is the most common pediatric primary neoplasm in the orbit, often presenting with rapid proptosis and orbital symptoms. We describe a 15-year-old girl who presented with an acute mass in her medial rectus muscle that was subsequently diagnosed as widely disseminated alveolar rhabdomyosarcoma. To our knowledge, this represents the first reported case in which an enlarged extraocular muscle was the initial manifestation of disseminated alveolar rhabdomyosarcoma.

Incidence of infraorbital hypesthesia and sinusitis after orbital decompression for thyroid-related orbitopathy: a comparison of surgical techniques.

PURPOSE: To compare the incidence of postoperative infraorbital (V2) hypesthesia and sinusitis between transantral/Caldwell-Luc and transconjunctival orbital decompression for thyroid-related orbitopathy. METHODS: A retrospective review of all orbital decompressions from January 1994 to January 2001 performed by one surgeon was done. Seventy-eight patients (133 orbits) with thyroid-related orbitopathy underwent orbital decompression for compressive optic neuropathy, exposure keratopathy, or uncontrolled intraocular pressure. Main outcome measures were the presence of V2 hypesthesia and sinusitis determined at 3 postoperative evaluations (1 to 2 weeks, 1 to 3 months, 3 to 6 months). RESULTS: The incidence of V2 hypesthesia in the transconjunctival group declined from 29.2% (19/65) to 6.1% (4/65), whereas the incidence of V2 hypesthesia in the transantral/Caldwell-Luc group decreased from 68.2% (43/63) to 46% (29/63) over the postoperative course. The rate of sinusitis in the transconjunctival group stayed constant at 6.1% (4/65) at early and late postoperative visits, whereas the transantral group rate of sinusitis declined from 33.3% (21/63) to 9.5% (6/63). CONCLUSIONS: Transconjunctival orbital decompression results in a statistically significant decrease of early and late postoperative infraorbital hypesthesia and early postoperative sinusitis when compared with the transantral approach.

Optic nerve sheath meningiomas and advanced treatment options.

PURPOSE OF REVIEW: Recent trends in the management of optic nerve sheath meningiomas have shifted towards fractionated conformal external beam radiotherapy. The purpose of this paper is to review the current literature on this subject and review the clinical characteristics and natural history of optic nerve sheath meningiomas. RECENT FINDINGS: Articles published within the last 2 years have reported the efficacy of using fractionated radiation therapy alone. A total of 62 patients in three studies have been reported; 40.3% retained stable visual acuity, 41.2% percent had improvement in their vision, and 18.4% percent had a decrease in visual acuity. Median follow-up time ranged from 22 to 51 months in these studies. SUMMARY: Optic nerve sheath meningiomas may be safely managed with fractionated external beam radiotherapy in select patients with possible improvement or stabilization of visual acuity. This represents an enormous improvement in a disease with typically poor visual prognosis.