Gender Authorship Trends in the Ophthalmic Plastic and Reconstructive Surgery Literature.

PURPOSE: Despite increasing numbers of women oculoplastic surgeons, they remain underrepresented within the subspecialty. The purpose of this study was to analyze trends in gender authorship within the field of ophthalmic plastic and reconstructive surgery. METHODS: This retrospective observational study sampled articles published in Ophthalmic Plastic and Reconstructive Surgery (OPRS) and Orbit during the years 1985, 1995, 2005, 2015, and 2020. Data reviewed included article type, total number of authors, and the gender of each article's first and senior author. RESULTS: Nine hundred ninety-nine articles were analyzed, including 701 in OPRS and 298 in Orbit. Of 3,716 total authors, 1,151 (31%) were women, including 297 (29.7%) first authors, and 191 (21.5%) senior authors. Women authorship in OPRS in 1985 (first, 3.9%; senior, 3.3%; all, 3.2%) significantly increased by 2020 (first, 44.6%; senior, 27.9%; all, 42%). Women authorship in Orbit in 1985 (first, 0%; senior, 4.5%; all, 7.4%) also significantly increased by 2020 (first, 43.3%; senior, 34%; all, 42.9%). In a subanalysis of OPRS original investigations alone, women first authorship increased from 3.1% in 1985 to 35.8% in 2020 (p < 0.001) and women senior authorship increased from 4.3% in 1985 to 25% in 2020 (p = 0.001). In a subanalysis of Orbit original investigations alone, women first authorship increased from 0% in 1985 to 65.4% in 2020 (p < 0.001) and women senior authorship increased from 5.3% in 1985 to 42.3% in 2020 (p < 0.001). CONCLUSIONS: Despite a significant increase in women authorship over the past several decades, women remain underrepresented within the oculoplastic literature, particularly in regard to senior authorship. When considering original investigations alone, there has been a significant increase in women first and senior authorship in both OPRS and Orbit.

Primary Synovial Sarcoma of the Orbit: A Case Report and Update on Diagnostic Techniques.

Synovial sarcoma is a malignant mesenchymal tumor that most commonly occurs in the deep soft tissue of the extremities in adolescents and young adults. Primary periocular synovial sarcoma is extremely rare with only 11 previously reported cases. We describe a 23-year-old woman who presented with a 1-year history of painful, progressive right upper eyelid swelling. She was subsequently found to have a superomedial orbital mass on CT scan. Pathologic evaluation revealed a spindle cell neoplasm with SS18 (SYT) rearrangement by fluorescence in situ hybridization studies, consistent with a monophasic synovial sarcoma. This case describes the clinical, radiographic, histopathologic, and molecular cytogenetic features of this rare orbital neoplasm, with an emphasis on the emerging diagnostic techniques and novel therapies.

COVID-19 Recommendations From Ophthalmic and Plastic Reconstructive Surgery Societies Worldwide.

PURPOSE: The COVID-19 pandemic has brought unprecedented challenges for oculoplastic surgeons worldwide, in terms of care delivery, medical equipment and at-risk patient management. To date, there are no centralized or compiled international COVID-19 guidelines for oculoplastic surgeons. METHODS: We examined COVID-19 guidelines published by oculoplastic societies worldwide. All countries around the world were initially considered in this study, but only 9 oculoplastic societies met the inclusion criteria: (1) publicly available guidelines displayed on the oculoplastic society's website, or (2) guidelines received from the oculoplastic society after contacting them twice using the contact information on their website. RESULTS: The 9 oculoplastic societies examined include: the American Society of Ophthalmic Plastic and Reconstructive Surgery, the British Oculoplastic Surgery Society, the Canadian Society of Oculoplastic Surgery, the European Society of Ophthalmic Plastic and Reconstructive Surgery, la Sociedad Española de Cirugía Plástica Ocular y Orbitaria, la Asociación Colombiana de Cirugía Plastica Ocular, the Asia Pacific Society of Ophthalmic Plastic & Reconstructive Surgery, the Oculoplastics Association of India, and the Philippine Society of Ophthalmic Plastic and Reconstructive Surgery. They all agree that urgent procedures should not be delayed, while non-necessary procedures (including all elective clinic services) should be postponed. When adequate protective equipment is available, oculoplastic surgeons must treat urgent cases. Eight out of 9 societies have provided recommendations on personal protective equipment use in order to prevent the spread of COVID-19 and to adequately protect mucous membranes. Other recommendations provided by certain societies are related to shelter in place measures, hand hygiene and surface disinfection protocols, patient triage, and thyroid eye disease management. CONCLUSIONS: All 9 societies with published recommendations have provided valuable recommendations to their members, regarding urgency of care and infection control solutions (personal protective equipment, hand hygiene, telemedicine, and social isolation).

Management and outcomes of proteasome inhibitor associated chalazia and blepharitis: a case series.

BACKGROUND: The purpose of this case series was to further characterize proteasome inhibitor associated chalazia and blepharitis, to investigate outcomes of different management strategies, and to propose a treatment algorithm for eyelid complications in this patient population. METHODS: This retrospective case series included sixteen patients found to have chalazia and/or blepharitis while receiving proteasome inhibitors for plasma cell disorders at Mount Sinai Hospital in New York, NY from January 2010 through January 2017. Main outcomes were complete resolution of eyelid complications and time to resolution. Student's t-test was used to compare average values and Fisher's exact test was used to compare proportions. RESULTS: Fourteen patients had chalazia and 10 had blepharitis. Chalazia averaged 5.4 mm, and 11 patients with chalazia experienced two or more lesions. Median follow-up time was 17 months. Average time from bortezomib exposure to onset of first eyelid complication was 3.4 months. Chalazia episodes were more likely to completely resolve than blepharitis episodes (p = 0.03). Ocular therapy alone was trialed for an average of 1.8 months before proceeding to bortezomib omission. Average time to eyelid complication resolution using ocular therapy alone was 1.8 months versus 3.1 months after bortezomib omission. In this series, the combination of ocular therapy and bortezomib omission led to complete resolution of eyelid complications more often than ocular therapy alone. CONCLUSION: Proteasome inhibitor associated eyelid complications were identified in sixteen patients with plasma cell disorders. Eyelid complications may be treated with a 2-month trial of conservative ocular therapies alone, followed by continuation of ocular therapy in combination with bortezomib omission if eyelid signs persist.

Orbital Metastasis From Urothelial Carcinoma: A Comprehensive Literature Review.

PURPOSE: To review the clinical features of orbital and choroidal metastases from urothelial carcinomas of the urinary tract among cases reported in the literature, and to describe a case of orbital metastasis from bladder cancer presenting as apparent internuclear ophthalmoplegia. METHODS: Case reports of orbital and choroidal metastases from urothelial carcinomas published in the literature from 1965 to 2018 were reviewed. Data collected included patient demographics, cancer stage and primary site, time to onset of ocular symptoms, length of presenting ocular symptoms, types of primary ocular symptoms, diagnostic imaging, histology, systemic and ocular treatments, and survival time. RESULTS: Twenty-eight cases of urothelial carcinoma with metastasis to the orbit or choroid were reviewed. Men were significantly more likely to suffer from this condition than women (p = 0.011). The average age of presentation with orbital symptoms was 63 years, with an average time of 19 months between primary cancer diagnosis and onset of orbital symptoms. Twenty-two patients had metastasis to the orbit and 6 to the choroid. In 4 cases, ocular deficits secondary to orbital and/or choroidal metastases were the initial presenting symptoms in patients with previously undiagnosed urothelial carcinoma. The most commonly noted primary ocular symptoms and signs consisted of decreased visual acuity, decreased ocular motility, proptosis, and diplopia. Average survival from onset of ocular symptoms was 4.67 months. CONCLUSIONS: Urothelial carcinoma may metastasize to the orbit or choroid; furthermore, its presentation may mimic internuclear ophthalmoplegia. It is recommended that any patient with visual symptoms and known urothelial cancer should undergo expedited workup for metastatic disease.

Prosthetic Replacement of the Ocular Surface Ecosystem (PROSE) Versus Standard of Care for Postsurgical Lagophthalmos and Exposure Keratopathy: Trends in Visual Outcomes.

PURPOSE: To compare baseline characteristics and visual acuity outcomes in patients treated with prosthetic replacement of the ocular surface ecosystem (PROSE) versus other standard-of-care (SOC) treatments for postsurgical lagophthalmos and exposure keratopathy. METHODS: An institutional review board-approved, retrospective cohort study of 45 consecutive patients (53 eyes) with postsurgical lagophthalmos and exposure keratopathy following oculoplastic or skull base surgeries treated between August 2011 and August 2017 was performed. Patients treated with PROSE (22 patients, 27 eyes) were identified by referrals made to the PROSE treatment program at Weill Cornell Medical College. Patients treated with SOC treatments (23 patients, 26 eyes) were identified by International Classification of Diseases-9 and International Classification of Diseases-10 search of billing records. SOC treatments included ocular surface lubrication (artificial tears and/or punctal plugs), tape tarsorrhaphy and/or moisture chamber, or surgical correction. The primary outcome measure was best-corrected visual acuity converted to logMAR at baseline and at 1, 3, 6, and 12 months. Secondary outcome measures were subjective patient reports of improvement in vision and comfort, as well as presence of punctate epithelial erosions and/or corneal haze on slit-lamp examination before and after treatment. RESULTS: Average age for all patients was 52 ± 22 years (range: 7-87). Twenty-eight (62%) of total patients were male. Baseline corrected logMAR visual acuity was 0.58 ± 0.40 (20/76) for PROSE and 0.27 ± 0.39 (20/37) for SOC cohorts (p < 0.001). Mean number of failed prior treatments was 8.3 ± 3 for PROSE and 2.1 ± 2 for SOC (p < 0.0001). Mean difference in logMAR visual acuity for PROSE versus SOC, respectively, from baseline to 1 month was 0.33 ± 0.26 (3-line improvement) versus 0.01 ± 0.17 (no line improvement; p < 0.0001), to 3 months was 0.31 ± 0.23 (3-line improvement) versus 0.08 ± 0.30 (4-letter improvement; p = 0.0004), to 6 months was 0.31 ± 0.28 (3-line improvement) versus 0.10 ± 0.36 (1-line improvement; p = 0.02), and to 12 months was 0.32 ± 0.28 (3-line improvement) versus 0.12 ± 0.34 (1-line improvement; p = 0.01). CONCLUSIONS: Patients with postsurgical lagophthalmos and exposure keratopathy treated with PROSE are more likely to have failed a higher number of treatments and have worse initial best-corrected visual acuities than those treated with SOC. Prosthetic replacement of the ocular surface ecosystem causes rapid and substantial visual improvement within 1 month of use compared with SOC, with little change beyond this time and sustained best-corrected visual acuity at 3, 6, and 12 months after treatment.

Severe disease presentation and poor outcomes among pediatric systemic lupus erythematosus patients in South Africa.

Background Systemic lupus erythematosus (SLE) is a life-threatening multisystem autoimmune disease that is more severe in patients of African ancestry and children, yet pediatric SLE on the African continent has been understudied. This study describes a cohort of pediatric SLE (PULSE) patients in South Africa. Methods Patients with a diagnosis of SLE (1997 American College of Rheumatology criteria) diagnosed prior to age 19 years in Cape Town, South Africa, were enrolled in this cross-sectional study from September 2013 to December 2014. Information on clinical and serological characteristics was extracted from medical records. Results were compared to a well-described North American pediatric SLE cohort. Results Seventy-two South African patients were enrolled in the study; mean age 11.5 years; 82% were girls. The racial distribution was 68% Coloured, 24% Black, 5% White and 3% Asian/Indian. Most patients presented with severe lupus nephritis documented by renal biopsy (61%). Of patients with lupus nephritis, 63% presented with International Society of Nephrology/Renal Pathology Society class III or IV. Patients in the PULSE cohort were more likely to be treated with cyclophosphamide, methotrexate and azathioprine. The PULSE cohort had high disease activity at diagnosis (mean Systemic Lupus Erythematosus Disease Activity Index-2K (SLEDAI-2K) 20.6). The SLEDAI-2K at enrolment in the PULSE cohort (5.0) did not differ from the North American pediatric SLE cohort (4.8). Sixty-three per cent of the PULSE cohort had end organ damage with Systemic Lupus International Collaborating Clinics Damage Index (SLICC-DI) score >0 (mean SLICC-DI 1.9), compared to 23% in a previously reported US cohort. Within the PULSE cohort, nine (13%) developed end-stage renal disease with six (8%) requiring transplant, strikingly higher than North American peers (transplant rate <1%). Conclusions The PULSE cohort had highly active multiorgan disease at diagnosis and significant disease damage at enrolment in the South African registry. South African patients have severe lupus nephritis and poor renal outcomes compared to North American peers. Our study revealed a severe disease phenotype in the PULSE cohort resulting in poor outcomes in this high-risk population.

The African Lupus Genetics Network (ALUGEN) registry: standardized, prospective follow-up studies in African patients with systemic lupus erythematosus.

BACKGROUND: The prevalence and severity of systemic lupus erythematosus (SLE) differs between ethnic groups and geographical regions. Although initially reported as rare, there is growing evidence that SLE is prevalent and runs a severe course in Africa. There is a paucity of prospective studies on African SLE patients. OBJECTIVE: The African Lupus Genetics Network (ALUGEN) is a multicentred framework seeking to prospectively assess outcomes in SLE patients in Africa. Outcomes measured will be death, hospital admission, disease activity flares, and SLE-related damage. We will explore predictors for these outcomes including clinical, serological, socio-demographic, therapeutic and genetic factors. Further, we will investigate comorbidities and health-related quality of life amongst these patients. METHODS: Data of patients recently (≤ 5 yrs) diagnosed with SLE will be collected at baseline and annual follow-up visits, and captured electronically. The ALUGEN project will facilitate standardized data capture for SLE cases in Africa, allowing participating centres to develop their own SLE registries, and enabling collaboration to enrich our understanding of inter-ethnic and regional variations in disease expression. CONCLUSION: Comprehensive, high-quality multi-ethnic data on African SLE patients will expand knowledge of the disease and inform clinical practice, in addition to augmenting research capacity and networking links and providing a platform for future biomarker and interventional studies.

Demographic and socioeconomic disparities in receipt of ophthalmology consultation for facial trauma.

OBJECTIVE: Functional outcomes following facial and ocular trauma are time-sensitive and require prompt evaluation to minimise long-term vision loss, yet few studies have systematically evaluated disparities in the management of these cases. This study investigates whether a patient's race/ethnicity, primary language, insurance status, gender or age affects receipt of ophthalmology consultation for facial trauma. METHODS AND ANALYSIS: This study was a retrospective cohort analysis of patients from the Elmhurst City Hospital Trauma Registry in Queens, New York who were seen for facial trauma including open globe injuries and orbital fractures between January 2014 and May 2016. RESULTS: Of the 264 patients included, 43% reported as Hispanic, 23% white, 11% Asian, 8% black and 15% other/unknown. After controlling for confounding variables by multivariable logistic regression, neither race/ethnicity, gender, nor primary language were significantly associated with the likelihood of receiving an ophthalmology consult. However, patients with private insurance had 2.57 times greater odds of receiving an ophthalmology consultation than those with Medicaid or state corrections insurance (95% CI 1.37 to 4.95). As age increased, the likelihood of receiving an ophthalmology consultation decreased (p=0.009); patients 60 years of age and older had one-third the odds of ophthalmology consultation as younger patients (OR 0.33; 95% CI 0.16 to 0.68). CONCLUSIONS: This study highlights that lack of ophthalmology consultation in patients with facial trauma is linked to age and underinsurance. Extra attention must be paid during primary assessments to ensure elderly patients and those with public insurance have equitable access to timely and appropriate care for facial trauma.

Osteoporosis in Africa-where are we now.

Africa is experiencing an exponential increase in the number of older persons. The number of persons surviving with human immunodeficiency virus is simultaneously increasing due to improved availability of anti-retroviral therapy. The burden of non-communicable diseases, in particular, osteoporosis and its consequent fragility fractures, is also predicted to increase. Osteoporosis, however, remains a neglected disease and there are no age-standardized reference data available to accurately screen and diagnose individuals with osteoporosis. Epidemiological studies reporting the incidence of hip fracture or vertebral fractures are limited from Africa, especially Sub-Saharan Africa. The studies are usually limited as they are based on a retrospective data and small study numbers and often from a single study site. However, compared with early initial studies, the more recent studies show that osteoporosis and fractures are increasing across the continent. The overall incidence rates for osteoporosis and fractures still vary greatly between different regions in Africa and ethnic groups. Predisposing factors are similar with those in developed countries, but awareness of osteoporosis is sorely lacking. There is a lack of awareness among the population as well as health authorities, making it extremely difficult to quantify the burden of disease. There is great potential for research into the need and availability of preventive strategies. The FRAX® tool needs to be developed for African populations and may circumvent the shortage of bone densitometry.

Differences in SARS-CoV-2 recommendations from major ophthalmology societies worldwide.

OBJECTIVE: Since the WHO declared the COVID-19 outbreak as a public health emergency, medical societies around the world published COVID-19 recommendations to physicians to ensure patient care and physician safety. During this pandemic, ophthalmologists around the world adapted their clinical and surgical practice following such guidelines. This original research examines all publicly available COVID-19 recommendations from twelve major ophthalmology societies around the world. METHODS AND ANALYSIS: Twelve ophthalmology societies recognised by the International Council of Ophthalmology were included in this study. One society per each WHO region was included: the society selected was the one who had the highest number of national COVID-19 confirmed cases on 11 May 2020. In addition to these countries, the major ophthalmology society in each G7 country was included. RESULTS: Ten out of 12 major international ophthalmology societies from countries covering all six WHO regions have given recommendations regarding urgent patient care, social distancing, telemedicine and personal protective equipment when caring for ophthalmic patients during the COVID-19 pandemic. While all guidelines emphasise the importance of postponing non-urgent care and taking necessary safety measures, specific recommendations differ between countries. CONCLUSIONS: As there is no clear consensus on ophthalmology guidelines across countries, this paper highlights the differences in international ophthalmic care recommendations during the COVID-19 pandemic. Knowledge of the differences in ophthalmic management plans will allow ophthalmologists and all eye care providers to consider the variety of international approaches and apply best practices following evidence-based recommendations during pandemics.

Ethnic and gender-specific incidence rates for hip fractures in South Africa: A multi-centre study.

BACKGROUND: Limited data exist on the incidence of hip fractures in South Africa (SA). We report gender and ethnic specific incidence rates of hip fractures in SA. METHODS: In a multicentre prospective study, conducted in geographically defined municipalities of three provinces in SA, a structured questionnaire was administered to all subjects aged 40 years and over, presenting with a new atraumatic hip fracture, from 1 April 2017 to 31 March 2018. Gender and ethnic specific incidence rates (IR) of hip fractures were calculated using population statistics from Statistics SA. FINDINGS: Of the 2767 subjects enrolled, 1914 (69·2%) were women and 853 (30·8%) were men. The majority of subjects were from the White population (40·9%) followed by those from the African (26·4%), Coloured (18·7%) and Indian (13·9%) populations. Men with hip fractures were significantly younger than women in the total group (69 [IQR 59-79] versus 77 years [IQR 68-84], p < 0·001) and in each ethnic group. White subjects were significantly older (p < 0·0001) and Africans significantly younger (p < 0·0001) than the other ethnic groups. In women, the highest IR was noted in the White population (176·0 per 100,000), followed by that in the Indian (147·7 per 100,000), Coloured (73·2 per 100,000) and African populations (43·6 per 100,000). A similar pattern was seen in men albeit at lower rates, with the highest rate in White men at 76·5 per 100,000. In the total study population and the African population, the IR was higher in men compared to women in subjects under 60 years. In the White population, the IR was higher in men compared to women in the 40-44 years age group. While in the Coloured and Indian populations the IR was higher in men compared to women in the 40-49 years and 45-54 years age groups, respectively. There was an increase in the relative risk ratios with age in the total study population, and in all ethnic groups in both women and men. INTERPRETATION: Hip fractures occur in all ethnic groups in South Africa with higher IRs in the White and Indian populations compared to the Coloured and African populations. Consistent with the published literature, the overall hip fracture IR was higher in women than in men, except in the younger age groups, and increased with age. FUNDING: South African Medical Research Council and the University of KwaZulu-Natal Competitive Research Grant.

Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma with Myxoid Stroma in a Hereditary Retinoblastoma Survivor.

Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) is an indolent, locally aggressive mesenchymal neoplasm, most often confined to the lower extremities and retroperitoneum and rarely identified in the orbit. Diagnosis of ALT/WDL can be challenging due to its frequent morphologic overlap with benign adipose lesions and other more aggressive liposarcoma subtypes, including myxoid liposarcoma. We describe a 26-year-old female with a history of hereditary retinoblastoma and external-beam radiotherapy to the orbit, who developed orbital liposarcoma. Although initial morphologic assessment raised the consideration of myxoid liposarcoma, subsequent fluorescein in situ hybridization studies demonstrated MDM2 and DDIT3 coamplification without DDIT3 rearrangement, supporting the diagnosis of ALT/WDL with myxoid stroma. The literature review of previously reported orbital myxoid liposarcomas revealed a morphologic overlap of documented tumors with ALT/WDL, dedifferentiated liposarcoma, and pleomorphic liposarcoma with myxoid stroma as well as an absence of immunohistochemical and molecular genetic data supportive of the diagnosis of myxoid liposarcoma. This case emphasizes the potential overlap of ALT/WDL with myxoid liposarcoma and the increasing importance of molecular genetic studies in the diagnosis, prognosis, and management of orbital liposarcoma.

Mucoepidermoid Carcinoma of the Lacrimal Sac: Clinical-Pathologic Analysis, Including Molecular Genetics.

PURPOSE: The aim of this study was to assess whether mucoepidermoid carcinoma of the lacrimal sac is a counterpart of CRTC1/3-MAML2 gene fusion-related salivary gland mucoepidermoid carcinoma. METHODS: In this retrospective observational case series, pathology records were searched for all cases of lacrimal sac mucoepidermoid carcinoma diagnosed between 1990 and 2018. Data collected included demographics, clinical findings, management, and follow-up. Pathologic parameters assessed included tumor morphology, immunohistochemistry, and MAML2 and EGFR fluorescence in situ hybridization (FISH) studies. RESULTS: Six patients with mucoepidermoid carcinoma of the lacrimal sac, 5 males and 1 female, with a median age of 63 years (range 24-66) were identified. Five tumors were managed with radical resection and 1 patient underwent orbital exenteration. None of the patients developed recurrence or metastases with an average follow-up of 18 months (range 13-23). All tumors had morphologic and immunohistochemical features of mucoepidermoid carcinoma and overexpressed EGFR. MAML2 FISH was negative for MAML2 rearrangement in all tumors. EGFR FISH demonstrated EGFR amplification in 1 tumor. CONCLUSIONS: Mucoepidermoid carcinoma of the lacrimal sac is not a lacrimal sac counterpart of CRTC1/3-MAML2 gene fusion-related salivary gland mucoepidermoid carcinoma. EGFR pathway activation and EGFR amplification in a subset of these neoplasms suggest the potential role for anti-EGFR agents.

A genomic insight into diversity among tribal and nontribal population groups of Manipur, India.

Twenty autosomal markers, including linked markers at two gene markers, are used to understand the genomic similarity and diversity among three tribal (Paite, Thadou, and Kom) and one nontribal communities of Manipur (Northeast India). Two of the markers (CD4 and HB9) are monomorphic in Paite and one (the CD4 marker) in Kom. Data suggest the Meitei (nontribal groups) stand apart from the three tribal groups with respect to higher heterozygosity (0.366) and presence of the highest ancestor haplotypes of DRD2 markers (0.228); this is also supported by principal co-ordinate analysis. These populations are found to be genomically closer to the Chinese population than to other Indian populations.

Spontaneous Regression of Florid Retinal Neovascularization Following Resolution of Traction Retinal Detachment in an Eye With Treated Retinoblastoma.

A 19-month-old boy with unilateral retinoblastoma with iris and retinal neovascularization at initial presentation displayed traction retinal detachment, retinal non-perfusion, and persistent retinal neovascularization after completion of intra-arterial chemotherapy. Two months following resolution of traction retinal detachment, restoration of retinal perfusion and regression of neovascularization occurred without additional intervention. Spontaneous regression of retinal neovascularization is possible following resolution of traction retinal detachment. [J Pediatr Ophthalmol Strabismus. 2019;56:e24-e27.].

Combined Endoscopic and External Resection of an Inverted Papilloma of the Lacrimal Sac: A Case Report and Review of the Literature.

BACKGROUND: Inverted papillomas (IPs) are benign, locally aggressive neoplasms with a high recurrence rate that most commonly arise from the lateral nasal wall. Rarely, IP can originate from the lacrimal sac and/or nasolacrimal duct (NLD) system. A 58-year-old man presented with chronic epiphora and an enlarging mass inferior to his left medial canthal tendon (MCT) for 2 years. OBJECTIVE: The patients' clinical presentation and surgical management are described. A literature review on IP of the lacrimal sac and NLD system was conducted. METHODS: Case report. RESULTS: We present a case of an IP that arose primarily from the lacrimal sac and grew below the MCT rather than extending above it. This is one of few published case reports detailing the use of a combined endoscopic and external approach for the resection of an IP of the lacrimal sac. CONCLUSION: Combined endoscopic and external resection is a viable approach for complete removal of extensive IP of the lacrimal sac and NLD system. IP arising from the lacrimal sac may grow below the MCT or extend above it as previously reported.

Mutations of FAM111B gene are not associated with Systemic Sclerosis.

Systemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. We have discovered that mutations in family with sequence similarity 111, member B (FAM111B) gene cause hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis, a multisystem fibrotic condition with clinical similarities to SSc. This observation has established FAM111B as a candidate gene for SSc. PATIENTS AND METHODS: Demographic and clinical characteristics of consenting adults with definite SSc were recorded. Blood DNA analysis was performed using the High-Resolution Melt technique, and samples with abnormal electropherograms were selected for Sanger sequencing to identify mutations. Ethnically-matched controls from the general South African population were used to verify the frequency of variants in FAM111B. Public databases such as 1000 Genomes and ExAC were also used to verify the frequency of variants in FAM111B. RESULTS: Of 131 patients, 118 (90.1%) were female, and 78 (59.5%) were black Africans. Genetic analysis revealed two FAM111B genetic variants. The c.917 A > G variant (rs200497516) was found in one SSc patients, and one control, and was classified as a missense variant of unknown significance. The c.988 C > T variant (rs35732637) occurred in three SSc patients and 42/243 (17.3%) of healthy controls, and is a known polymorphism. CONCLUSION: One rare variant was found in a patient with SSc but has no functional or structural impact on the FAM111B gene. In this cohort, FAM111B gene mutations are not associated with SSc.