Orbital manifestations of granulomatosis with polyangiitis: 12-year experience in Mexico City.

PURPOSE: To present the clinical picture and radiological characteristics of orbital manifestations of granulomatosis with polyangiitis in a Mexican hospital and compare them with worldwide literature. METHODS: Retrospective, observational study from January 2007 to January 2019. An electronic file review was performed. All patients with the diagnosis of granulomatosis with polyangiitis (GPA) in the Oculoplastics department were included. Ophthalmological examination, biopsy, antibodies and tomographical results were included in the data collected. Descriptive statistics were obtained. RESULTS: One hundred and one patients in our institute had a diagnosis of GPA. Only 15 (14.8%) had orbital manifestations and were included in our study. 73.3% were female with a median age of 46.20 years (17-81). Diagnostic delay was on average 6 months. Only 6.7% had bilateral manifestations. No past medical history was found in 40%, 20% had a previous diagnosis of systemic GPA. Pain was reported in 73.3%. Increase of volume (proptosis or diffuse orbital mass) was present in 86.7%. C-ANCA antibodies were positive in seven patients (46.7%). In tomography, lacrimal gland involvement was present in 33.3% and diffuse orbital mass was present in 66.6%. Definite diagnosis was done with biopsy in 93.3%. One patient died from complications of GPA. CONCLUSIONS: Ophthalmologists should consider this rare disease as a differential diagnosis of orbital tumors, as it may have different clinical manifestations, even in non-Caucasian population. When in doubt, biopsy is always valuable. The statistics at our reference center correspond with statistics reported worldwide.

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients. A total of 12 individuals with typical facial findings were included. Clinical evaluation included palpebral measurements and levator function assessment. The complete coding sequence of FOXL2 was amplified by PCR and subsequently analyzed by Sanger sequencing. A total of 11 distinct FOXL2 pathogenic variants were identified in our cohort (molecular diagnostic rate of 92%), including 5 novel mutations. Our results broaden the BPES-related mutational spectrum and supports considerable FOXL2 allelic heterogeneity in our population.

Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.

Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient's eyelids resolved her signs and symptoms.

Alveolar soft part sarcoma of the orbit, a case report of a rare tumor.

BACKGROUND: Alveolar Soft Part Sarcoma is a rare malignant tumor of uncertain histogenesis, representing 0.5-1% of all soft tissue tumors. It occurs predominantly in head and neck regions, especially the orbit and the tongue, in infants, causing no specific symptoms for an extended period of time. CASE: A four year old girl was brought to consultation because of persistent swelling of her left upper and lower eyelid for the past six months. A 4 mm proptosis was noted on her left eye with significant upwards displacement of the globe. A firm, not pulsating and non tender mass was palpated, and motility examination revealed deficient abduction and infraduction. Visual acuity was 20/40 and 1/200 in the right and left eye, respectively. The computed tomography revealed an extraconal mass on the inferotemporal aspect of the left orbit, with no bony erosion or globe invasion. An excisional biopsy was made, finding a tumor with nests of clusters of large polygonal cells, separated by fibrous septa and a sinusoidal vascular channel. An Alveolar Soft Part Sarcoma was diagnosed. Our patient had a favorable post-operative follow up, and oncologic evaluations have not shown metastasis or local recurrences. Observations and Conclusions: Alveolar Soft Part Sarcoma is a rare malignant tumor of indolent course, but with propensity to distant metastases, making early diagnose and long term follow up necessary.

Orbital Emphysema as a Rare Complication of Retina Surgery.

Three patients with a history of previous pars-plana vitrectomy, 2 of them with perfluoropropane, and 1 with sulfur hexafluoride used, experienced eyelid swelling and pain after travelling to a higher altitude city. Gas was found in the orbit and periocular tissues, causing orbital compartment syndrome in 2 of the patients. The gas persisted on these patients despite surgical intervention, so hyperbaric oxygen therapy was advised. One patient refused, the other patient responded well to this therapy and the gas disappeared. The patient without an orbital compartment syndrome made a full recovery without needing medical or surgical intervention.