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.

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.

Management of Congenital Nasolacrimal Duct Obstruction with Probing, Experience in a Mexican Eye Center.

OBJECTIVE: To describe the management, complications and prognosis of lacrimalprobing in patients with congenital nasolacrimal duct obstruction (CNLDO). MATERIALS AND METHODS: Retrospective, observational and analytical study. We studied the prevalence, symptoms and signs, both before and after probing, in patients with CNLDO diagnosed between 2010 and 2017 at Instituto Fundación Conde deValenciana. RESULTS: The prevalence at our hospital of congenital nasolacrimal duct obstruction in children less than 1 year of age was 16.1%. 71 eyes of 56 patients undergoing probing were analyzed. 61% of patients were male. The right eye was affected in 46.4%.The average age of diagnosis of CNLDO was 10.2±7.6 months. 84.5% consulted for excessive tearing and 73.2% because of eye discharge. On ophthalmological examination, 71.8% had increased tear meniscus and 45.1% had discharge from punctum when digital pressure was applied to the lacrimal sac. The average age at the time of probing was 14.1±8.4 months. Subsequent to the probing, only 21.1% reported presence of tearing and 5.6% reported ocular discharge, both with a statistically significant reduction (p<0.05 from pre-op). After probing, only 16.9% of eyes had increased tear meniscus and 11.3% presented discharge from punctum after pressure at the lacrimal sac. Both decreases were statistically significant (p<0.05). 2 eyes (2.82%)of 2 patients required a second probing to obtain full resolution. CONCLUSION: Probing was successful in 76.1% of eyes. Success was observed even inpatients over 2 years of age. There was a statistically significant decrease of both signs and symptoms of CNLDO with lacrimal probing.

The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.

BACKGROUND: Inherited eye disorders are genetically determined conditions that are present from birth and usually manifest early, although some may develop later in life. Despite their low incidence, they are a common etiology of pediatric blindness. The occurrence of more than one such disease in a patient is very rare. MATERIAL AND METHODS: Case series of two unrelated patients with simultaneous Stargardt disease (STGD1) as well as Stickler's Syndrome (SS), both genetically confirmed. RESULTS: Patient 1: 13-year-old girl was referred for unexplained bilateral decreased vision for 6 months. She had a clinical diagnosis of SS, same as her mother. Her visual acuity was 20/200 with high myopia in both eyes. Her fundus showed foveal/perifoveal atrophy, retinal pigment epithelium (RPE) changes and beaded vitreous. Goldman visual fields (GVF) revealed enlarged blind spots with central depression. A macular dystrophy was suspected. Genetic testing revealed SS, COL11A1 gene mutation; and STGD1, ABCA4 gene mutation. Patient 2: 67-year-old female with a history of hearing loss, cleft palate, strabismus and myopia, same as her daughter and granddaughters. Her visual acuity was 20/400 and 20/250 with high myopia in both eyes. Her fundus showed macular pigment clumping and RPE atrophy with no vitreous abnormality. GVF revealed a relative central scotoma with generalized constriction. Genetic testing revealed SS, COL11A2 gene mutation; and STGD1, ABCA4 gene mutation. CONCLUSIONS: If a patient's signs/symptoms cannot be explained by the working/known diagnosis, additional work up should be pursued for concomitant diseases. SS and STGD1 are commonly diagnosed inherited eye disorders and can coexist in one patient on rare occasions.

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.

Zone I of Tear Microdesiccates Is a Lipid-Containing Structure.

PURPOSE: Morphological features of tear microdesiccates on glass surfaces have been associated with tear fluid status. Tear-film lipids play a critical role in the pathophysiology of some ocular surface disorders. Tear microdesiccates display 4 distinctive morphological domains (zones I, II, III, and transition band). In this study, we investigated the lipid location in tear microdesiccates. METHODS: Tear from individual healthy eyes (assessed by symptoms, signs, and slit-lamp examination) was collected using absorbing minisponges. One-µL aliquots were allowed to dry under ambient conditions on microscope slides. Tear microdesiccates were examined by various transmitted light microscopy methods. Tear lipids were located both by partition experiments using 2 lipophilic dyes (Oil red O and Nile blue A) mixed with tear fluid under conditions preserving morphological features of microdesiccates and by assessing the effect of 2 solvents markedly differing in polarity (water and ethanol) on the morphology of particular domains of preformed microdesiccates. RESULTS: During desiccation, both Nile blue A and Oil red O became preferentially located in the outermost domain of tear microdesiccates (zone I) without affecting the formation of major fern-like crystalloids (zones II and III). Low volumes of water drastically affected fern-like crystalloids, whereas the gross morphology of zone I was maintained. Contrarily, ethanol, a less polar solvent, was a fixative for fern-like crystalloids, although it markedly affected the bulk of zone I by extracting liquid droplets out of microdesiccates and visibilizing some filamentous subcomponents. CONCLUSIONS: Zone I is a hydrophobic domain, whereas zones II and III are highly hydrophilic domains of tear microdesiccates. Zone I represents a lipid-rich structure.

Esotropia surgery in children with Down syndrome.

PURPOSE: To evaluate postoperative alignment in children with and without Down syndrome after surgical correction of esotropia. METHODS: The medical records of consecutive patients with Down syndrome who underwent corrective surgery for esotropia between August 1992 and July 2012 were retrospectively reviewed. Age range for eligibility was between 8 months and 17 years at surgery. The control group comprised randomly selected, age-matched patients without Down syndrome who underwent the same surgical procedure. Postoperative alignment within 10(Δ) of orthotropia at 6 months' follow-up and at the final postoperative visit was considered a successful outcome. RESULTS: A total of 17 children with Down syndrome and 27 control subjects were included. The control group and Down syndrome group did not differ significantly in either postoperative follow-up (5.2 ± 3.2 versus 5.6 ± 5.2 years, respectively) or magnitude of deviation before surgery (40 ± 18.2(Δ) versus 39 ± 12.8(Δ), respectively). Surgical success was achieved in 76% of patients with Down syndrome and in 85% of control patients at 6 months' follow-up. CONCLUSIONS: In this patient cohort, good surgical outcomes were achieved in children with esotropia and Down syndrome compared with those with esotropia but without Down syndrome using the same surgical technique.