Frontalis Suspension Surgery for Patients with Essential Blepharospasm Unresponsive to Botulinum Toxin Injections

Purpose@#To report the efficacy of frontalis suspension using a silicone rod or preserved fascia lata for patients with blepharospasm who exhibit persistent symptoms and visual dysfunction unresponsive to botulinum injections. @*Methods@#The clinical records of five patients (10 eyes) with essential blepharospasm who underwent frontalis suspension were reviewed. Patients who continued to report eyelid-opening difficulties despite prior administration of botulinum toxin were included. @*Results@#The mean patient age was 60.2 years; and 40% of the patients were women. The frontalis was suspended using silicone rods (n = 3) or preserved fascia lata (n = 2). Blepharospasm frequency and severity were measured using the Jankovic Rating Scale (JRS). Compared with preoperative scores, the summed JRS scores decreased 1 week, 1 month, and 3 months after surgery. Postoperatively, two patients (40%) did not require further botulinum toxin injections. In three patients, the intervals between injections were increased after surgery. No patient experienced any significant complication. @*Conclusions@#Frontalis suspension is safe and effective for patients with blepharospasm and apraxia of eyelid opening, who have not responded to botulinum toxin injections.

Efficacy and Safety of Letibotulinum Toxin A for the Treatment of Essential Blepharospasm

PURPOSE: To evaluate the efficacy and safety of BOTULAX® in subjects with essential blepharospasm.METHODS: In this study, a total of 250 subjects with essential blepharospasm were enrolled at 15 investigational sites and a total of 220 subjects completed the study. The efficacy and safety were evaluated at weeks 4 and 16 after treatment compared with baseline. In total, 240 subjects were enrolled, treated with the investigational product, and evaluable for the primary efficacy assessment at week 4 after treatment; these subjects were included in the intention-to-treat (ITT) population. With the ITT set as the main efficacy set, efficacy assessment included Jankovic rating scale (JRS), functional disability score, investigator evaluation of global response and quality of life. Safety assessment including the incidence of adverse events was also performed.RESULTS: In terms of the primary efficacy endpoint (i.e., change in JRS total score at week 4 after treatment from baseline [ITT set]), mean change indicated a statistically significant reduction (p < 0.0001) and demonstrated the non-inferiority of the test drug to similar drugs. In terms of the secondary efficacy endpoints, mean change in JRS total score at week 16 after treatment and mean change in functional disability score at weeks 4 and 16 after treatment both exhibited a statistically significant reduction compared with baseline (p < 0.0001 for all). Among the 249 subjects treated with the investigational product in this study, 44 (17.67%) experienced 76 treatment emergent adverse events but no serious adverse events were observed.CONCLUSIONS: Based on the study results, BOTULAX® is considered to be an effective and safe treatment for essential blepharospasm.

A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.

Clinical Outcomes and Refractive Error Characteristics in Patients with Congenital Blepharoptosis after Ptosis Repair Surgery

PURPOSE@#We investigated changes in postoperative refractive error after surgery to treat congenital ptosis and the clinical outcomes by surgical method.@*METHODS@#The study was retrospective and interventional. We enrolled 73 patients in whom 86 eyes exhibited visual axis-obscuring congenital ptosis. All patients were under 8 years of age, with refractive errors or amblyopia, and underwent maximal levator resection or frontalis sling surgery with fascia lata preservation from January 2008 to January 2018; the minimum follow-up time was 6 months. Visual and surgical outcomes were assessed by reviewing clinical photographs taken before and 1 year after surgery. Refractive error changes were measured at these times.@*RESULTS@#Maximal levator resection was performed on 42 of 86 eyes (48.8%) and frontalis sling surgery with preservation of the fascia lata on 44 eyes, 95.2% and 75.0% of patients, respectively, exhibited good or fair surgical outcomes. The preoperative mean astigmatisms of the ptotic and control eyes of those with unilateral disease did not differ significantly: −0.71 ± 0.85 D for ptotic eyes and −0.66 ± 0.97 D for control eyes. The mean astigmatism increased from −0.71 ± 0.85 D preoperatively to −1.27 ± 1.2 D postoperatively (p < 0.001). The postoperative MRD1 value correlated with the increase in postoperative astigmatism (p = 0.022, r = −0.261).@*CONCLUSIONS@#Maximal levator resection tended to afford better surgical outcomes than frontalis sling surgery with preservation of the fascia lata in patients with congenital ptosis. Patients in whom the postoperative eyelid position was good tended to exhibit higher refractive errors. Careful examination and treatment are recommended to ensure good visual outcomes.

Primary Localized Amyloidosis in Extraocular Muscles

PURPOSE@#Primary localized amyloidosis is a disease characterized by the deposition of abnormal protein fibrils in a specific tissue without systemic involvement. We report a rare case of primary amyloidosis involving the extraocular muscle.CASE SUMMARY: A 51-year-old female visited our clinic due to diplopia. There was a 3 mm exophthalmos and restricted ocular motility in infraduction. Right hypertropia with 25 prism diopters was observed in the primary position. Orbital imaging scans showed fusiform enlargement of the inferior and medial rectus muscles with significant contrast enhancement in the right eye. A calcified nodule embedded in the medial rectus muscle was observed. Empirical steroid pulse therapy was conducted, but the patient showed little response. Subsequently, an incisional biopsy of inferior rectus muscle was performed. A histopathological examination showed amyloid deposits in hematoxylin and eosin staining, and a positive birefringence in Congo-red staining under polarized light, confirming amyloidosis. A systemic work up showed no evidence of systemic amyloidosis besides increased levels of rheumatoid factor.@*CONCLUSIONS@#When infiltrative myopathy of the extraocular muscle is suspected in a patient with exophthalmos and enlargement of extraocular muscles, primary amyloidosis should be considered in the differential diagnosis.

Poorly Differentiated Neuroendocrine Carcinoma of the Eyelid

PURPOSE: To report a case of poorly differentiated neuroendocrine carcinoma of the eyelid. CASE SUMMARY: A 70-year-old male presented with a 5-month history of a right upper eyelid mass. The mass appeared as 1.2 × 1.2 cm on the right upper eyelid. A mass excision was performed under frozen section control. The tumor was completely excised with a safety margin clearance and an upper eyelid reconstruction was performed. Histopathological examination revealed a tumor composed of small atypical cells which showed a high nuclear/cytoplasm ratio, nuclear molding, and increased mitotic activity. Immunohistochemical examination revealed positive reactivity for Ki-67, synaptophysin, CD56, and negative reactivity for chromogranin, cytokeratin 20, and thyroid transcription factor-1. CONCLUSIONS: Primary neuroendocrine carcinoma of the eyelid is extremely rare, but the tumor has high malignancy and readily metastasizes. Poorly differentiated neuroendocrine carcinoma should be considered in the differential diagnosis of a rapidly growing eyelid mass.

A Case of Orbital Chondroma

PURPOSE: To report a case of orbital chondroma. CASE SUMMARY: A 15-year-old male presented with an 8-month history of left hypertropia. The best-corrected visual acuity was 20/20 in both eyes. The exophthalmometry showed no exophthalmos, with 13 mm in both eyes. There was a hard palpable mass at the superonasal orbit of the left eye. Orbital computed tomography showed a heterogenous soft tissue shadow at the superonasal orbit of the left eye, and orbital magnetic resonance imaging revealed a 25 × 16 × 20 mm well-defined mass with low signal intensity in the T1-weighted image, high signal intensity in the T2-weighted image, and heterogenous enhancement in the contrast enhanced T1-weighted image. The mass was surgically removed with anterior orbitotomy. A 27 × 17 mm well-capsulated lobular mass was found, and histopathological examination revealed hyaline cartilage and chondrocyte. The mass was diagnosed as a chondroma. CONCLUSIONS: A chondroma is a benign tumor, which usually occurs in long bones and the small bones of the hands and feet. It is very rare in the facial and pelvic bones. The sites of chondroma occurring in the head and neck include the ethmoid sinus and maxilla, but it is extremely rare in the orbit.

Low-Dose Radiation Therapy for Primary Conjunctival Marginal Zone B-Cell Lymphoma / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The purpose of this study was to evaluate the clinical features and the long-term outcomes of primary conjunctival marginal zone B-cell lymphoma (MZBCL) patients who were treated with radiation therapy (RT). MATERIALS AND METHODS: Retrospective data of 79 patients with 121 primary conjunctival MZBCL lesions were collected from January 1, 2001 till June 30, 2014. All lesions were treated by local RT (26 Gy) with patient-specific customized lens-shielding device. RESULTS: The current Korean patients' cohort showed younger median age at diagnosis (38 years), great female preponderance (78.5%) and more frequent bilateral involvement (53.2%) than the previous studies. Following 26 Gy's RT, excellent clinical outcomes were achieved: 5-year rates of overall survival, local relapse-free survival, and contralateral relapse-free survival were 100%, 98.1%, and 91.5%, respectively. Two patients (2.5%) developed local relapse and five (6.3%) developed relapse at initially uninvolved contralateral conjunctiva with median interval of 52.9 months, and late adverse events of grade 2 and 3 occurred in seven (8.8%) and two (2.5%) patients, respectively. CONCLUSION: 26 Gy's RT was highly effective and safe, with the use of lens-shielding device, in treating patients with primary conjunctival MZBCL.

Adult-Onset Asthma and Periocular Xanthogranuloma in a 75-Year-Old Man

PURPOSE: Adult xanthogranulomatous disease of the orbit including adult-onset asthma and periocular xanthogranuloma is rare. To the best of the author's knowledge, adult-onset asthma and periocular xanthogranuloma have not been previously reported in Korea. CASE SUMMARY: A 75-year-old man presented with a 15-year history of progressive bilateral yellowish eyelid mass. He had a history of adult-onset asthma diagnosed 13 years ago. On ocular examination, there were firm yellowish bilateral eyelid masses and ptosis markedly on the right eye. Exophthalmos was noted in the right eye. There were exotropia, hypertropia, and gaze restriction of the right eye. Orbit magnetic resonance imaging demonstrated an ill-defined bilateral infiltrative orbital mass extending to the lid, lacrimal gland, and sinuses. A right orbital mass extended to the posterior orbit. Enlargement of extraocular muscles was also noted in the right eye. Left upper eyelid mass debulking surgery was performed. A combination therapy of azathioprine and prednisolone was started. Mass debulking surgeries of the right upper and lower eyelids were performed. CONCLUSIONS: Adult-onset asthma and periocular xanthogranuloma is known as a refractory disease. Combination therapy with azathioprine and steroid therapy with mass debulking surgery is a good treatment option for adult-onset asthma and periocular xanthogranuloma.

Osteoneogenesis on Subperiosteal Orbital Hematoma in a 10-Year-Old Boy

PURPOSE: We report the first case in Korea of rapid bone formation on a subperiosteal orbital hematoma after trauma. CASE SUMMARY: A 10-year-old boy who was in the intensive care unit after trauma showed proptosis and ocular movement limitation of the right eye associated with subperiosteal hematoma. On ocular examination, 3 mm of proptosis and limitation of right eye movement were observed; however, visual acuity was not decreased. At 1 month after the trauma, orbital computed tomography (CT) showed new bone formation at the margin of the hematoma border although the size of the hematoma decreased. The patient underwent hematoma and bony tissue removal using anterior orbitotomy approach. A new bone was formed between the orbital border and hematoma from the anterior orbital margin to the orbital apex. During pathological examination, woven bone tissue with fibrotic tissue was observed in the hematoma wall. One year after surgery, the patient's proptosis and limitation of ocular movement disappeared without any evidence of new bone formation. CONCLUSIONS: Waiting for spontaneous absorption of orbital subperiosteal hematoma is usually recommended unless there is significant functional impairment. However, as in our case, new bone formation could occur during a short period of less than 1 month; imaging follow-up is necessary in patients having intensive care or showing delayed absorption of a hematoma.

Lacrimal Intrasaccal Cyst

No abstract available.

Primary Squamous Cell Carcinoma of the Orbit

PURPOSE: Normal squamous cells do not exist in the orbit. Therefore squamous cell carcinoma of the orbit is rare and usually arises as a secondary tumor from distant metastasis or local invasion. The authors herein describe the first case of primary squamous cell carcinoma of the orbit in Korea. CASE SUMMARY: A 74-year-old female presented with a 2-month history of left upper eyelid swelling and ocular pain. On physical examination, a round, firm, fixed and tender mass was palpable in the superomedial side of the left orbit. Magnetic resonance imaging (MRI) showed 21 mm x 15 mm x 20 mm-sized irregular soft tissue mass with indistinct margin and peripheral enhancement in the superomedial portion of the left orbit, and incisional biopsy of the mass was performed. Histopathological examination showed clusters of squamous cells with polymorphic nuclei and interspersed keratin pearls, consistent with findings of well-differentiated squamous cell carcinoma. Despite extensive systemic work-up, there was no sign of extraorbital malignancy. The patient received left exenteration and adjuvant radiation therapy. Ten months after enucleation, a 12 mm x 14 mm sized firm mass developed on the left forehead, and excisional biopsy and frontalis rotational flap reconstruction were performed. Histopathological examination of the mass was consistent with well-differentiated squamous cell carcinoma. The patient remained alive 17 months after diagnosis without evidence of local recurrence or distant metastasis. CONCLUSIONS: Primary squamous cell carcinoma should be considered in the differential diagnosis of acutely progressing tumors of the orbit.

Two Cases of Actinomyces Infection in a Hydroxyapatite Orbital Implant with a Motility Peg

PURPOSE: To report 2 cases of Actinomyces infection in a hydroxyapatite orbital implant with a motility peg. CASE SUMMARY: A 44-year-old male and a 55-year-old male who underwent evisceration and implantation of a hydroxyapatite implant in the left eye 17 and 15 years prior, respectively, presented with a conjunctival sac granuloma with discharge and bleeding of 1 year duration. Both patients had a history of motility peg implantation. A large-area of the hydroxyapatite implant was exposed after removal of the granuloma. The previous orbital implant was removed, and the exposed area was covered with a dermis fat graft in both patients. On histopathological examination, Actinomyces infection in the orbital implant was observed in both patients. CONCLUSIONS: To the best of our knowledge, this is the first case report of actinomycosis of hydroxyapatite orbital implant in Korea. In a patient with a porous orbital implant, the possibility of Actinomyces infection of the orbital implant should be considered after a long-duration and large-area exposure of the implant.

Primary Orbital MALT Lymphoma Associated with Localized Amyloidosis

PURPOSE: To report a case of primary orbital MALT lymphoma with localized amyloidosis. CASE SUMMARY: A 61-year-old male visited our clinic with diplopia, which had developed approximately 5 months earlier. Magnetic resonance imaging of the orbit showed an ill-defined well-enhanced mass in the left inferior orbit. Incisional biopsy of the orbital mass was performed. Histopathological examination revealed diffuse deposits of an amorphous, eosinophilic substance in the extracellular matrix and vessels with lymphocytes infiltration. Lymphocytes were positive for the immunohistochemical stain against the CD20 and kappa-light chain antigens. The amorphous material stained positive for kappa-light chain antigen, and Congo red staining showed birefringence. CONCLUSIONS: We report a rare case of primary orbital MALT lymphoma associated with localized amyloidosis.

Prevalence and Risk Factors for Thyroid Eye Disease among Korean Dysthyroid Patients

PURPOSE: To determine the prevalence of thyroid eye disease among dysthyroid Korean patients and to analyze the relationship between demographic data, lifestyle risk factors, and status of thyroid disease and thyroid eye disease. METHODS: All dysthyroid patients who visited endocrinology clinics in 24 general hospitals in Korea during a chosen one-week period were enrolled in this cross-sectional study. Data were collected during an interviewer-administered questionnaire and chart review. Demographic data, lifestyle risk factors, and status of thyroid disease variables were analyzed as risk factors using multivariable regression models to identify independent associations with thyroid eye disease. RESULTS: A total of 1,632 dysthyroid patients were included (1,301 females [79.7%] and 331 males [20.3%]). Two hundred eighty-three of these patients (17.3%) had thyroid eye disease. Multiple logistic regression analyses revealed that female gender, young age, Graves' disease, dermopathy, anti-thyroid medication treatment, and radioiodine treatment were independent risk factors for thyroid eye disease. CONCLUSIONS: The lower prevalence of thyroid eye disease in dysthyroid Korean patients and the influence of gender on risk factors in this study are novel findings compared to studies performed involving Europeans. Although the risk factors for thyroid eye disease are understood in part, a more in-depth comparative study of gender and ethnic groups is needed to fully understand the biological significance of the demographic factors.

Dacryocystographic Findings in Unilateral Epiphora with Patent Lacrimal Drainage System

PURPOSE: To evaluate the morphologic change in the lacrimal drainage system using dacryocystography in patients with unilateral epiphora with patent lacrimal drainage system. METHODS: Clinical records of patients referred to our clinic for epiphora between October 2007 and August 2011 were reviewed. The study group included 38 patients who had symptoms of unilateral epiphora with patent lacrimal drainage system. The studied patients included 10 males and 28 females with ages varying between 24 and 72 years. RESULTS: Abnormal dacryocystographic findings in the tearing eye were 78.9% and abnormal dacryocystographic findings in the asymptomatic eye were 47.4%. Common abnormal findings included distal nasolacrimal duct stenosis, distal nasolacrimal duct dilatation and nasolacrimal sac dilatation. CONCLUSIONS: In many cases, morphologic change in the lacrimal drainage system was observed in patients with unilateral epiphora with patent lacrimal drainage system. Dacryocystographic findings may contribute in devising a treatment plan for these patients.

Intraocular Lymphoma after Cardiac Transplantation: Magnetic Resonance Imaging Findings

We report a case of intraocular lymphoma in a 65-year-old man, 15 months after cardiac transplantation. On Magnetic Resonance (MR) images, the iris and the anterior chamber of the right eye were found to be involved with an enhancing soft-tissue lesion. To our knowledge, this is the first case of post-transplantation intraocular lymphoma evaluated with MR imaging.

Malignant Solitary Fibrous Tumor of the Orbit

PURPOSE: Solitary fibrous tumor (SFT) is a rare tumor of the pleura, mediastinum, pericardium and other organs affecting predominantly middle-aged patients. SFT arising in the orbit is extremely rare, and its malignant form is even rarer. The authors herein describe a case of malignant solitary fibrous tumor of the orbit. CASE SUMMARY: A 67-year-old male presented with a 4-month history of right proptosis. On ophthalmologic examination, 9-mm proptosis was observed in the right eye, and extraocular movements were limited in all directions of gaze. CT scan and MR imaging showed a lobulated, well-enhancing mass adjacent to the lateral rectus muscle in the superolateral retrobulbar space. Excisional biopsy through a lateral orbitotomy was performed. Histopathological examination showed proliferation of spindle cells with a fascicular pattern interspersed with bands of collagen, increased cellularity, cellular pleomorphism, hemorrhage, necrosis and high mitotic activity. Immunohistochemical staining revealed diffuse positivity for CD34, CD99, Ki67 and p53, and malignant SFT was diagnosed. CONCLUSIONS: Malignant SFT should be considered in the differential diagnosis of acutely progressing unilateral proptosis.

Conjunctival Hypertrophic Scar Following Cryotherapy for Retinopathy of Prematurity

A 6-year-old boy was referred to our hospital with symblepharon and lateral canthal deformity in both eyes, which developed 6 years ago. The patient was born at 27 weeks gestation. He had received cryotherapy for retinopathy of prematurity. One month after cryotherapy, he developed a conjunctival scar with symblepharon in both eyes and underwent symblepharon lysis at another hospital 5 years prior. Ocular examination revealed an extensive conjunctival hypertrophic scar with symblepharon and limitation of extraocular movements. An excisional biopsy, lateral canthoplasty, and symblepharon lysis with conjunctival autograft from the contralateral eye were performed in the left eye. Histopathologic examination revealed diffuse proliferation and infiltration of collagenous tissue.

Intranasal Procedures for Endonasal Dacryocystorhinostomy

PURPOSE: To describe the rate of surgical intervention to the intranasal structures for making a sufficient bony ostium in endonasal dacryocystorhinostomy. METHODS: Video records of 52 Korean patients (66 eyes) who underwent endonasal dacryocystorhinostomy between January 2010 and December 2010 for primary nasolacrimal duct obstruction were reviewed. To locate the internal common punctum in the lateral nasal wall, a transcanalicular illumination device consisting of disposable vitrectomy light pipe was introduced horizontally through the canaliculus. The relative position of the internal common punctum to the operculum of the middle turbinate was divided into 4 types and analyzed according to the intranasal surgical procedures necessary. RESULTS: Internal common punctum was located posterior-superior to the operculum of the middle turbinate in 37 cases (56%), anterior-superior in 16 cases (24%), posterior-inferior in 11 cases (17%) and anterior-inferior in 2 cases (3%). To expose the bony ostium, partial removal of the operculum of the middle turbinate was required in 63 cases (95%), anterior middle turbinectomy in 43 cases (65%), uncinectomy in 62 cases (94%) and opening of the agger nasi cell in 45 cases (68%). CONCLUSIONS: In a majority of patients, partial removal of the middle turbinate, uncinate process and agger nasi cell were necessary to create a sufficient bony ostium. The transcanalicular illumination device is useful to locate the lacrimal sac and can be helpful in understanding the intranasal structures which need to be removed during surgery.