Treatment of symptomatic epiblepharon with Botulinum toxin type A in patients under 2years of age. / Experiencia del uso de la toxina botulínica tipo A para el tratamiento sintomático del epiblefaron en pacientes menores de 2 años.

INTRODUCTION: Epiblepharon is a congenital eyelid malposition due to a horizontal skin fold and a redundant orbicular muscle, resulting in the inward positioning of the eyelashes. OBJECTIVE: Personal experience is presented of the non-surgical correction of symptomatic epiblepharon using a pretarsal injection of 5 IU of botulinum toxin type A (BoNT-A) into the orbicular muscle. MATERIAL AND METHODS: Patients with epiblepharon younger than 2 year were included in the study. A review was made of their clinical charts and the symptoms and signs of epiblepharon were evaluated before and after treatment with BoNT-A. RESULTS: A total of 40 patients were included (28 girls [70%]). The mean age at treatment was 11 months (range, 4-24 months). A total of 76 eyelids were treated with BoNT-A. A statistically significant improvement in symptoms, lash-corneal touch, and punctate corneal epitheliopathy were reported after the treatment with 5IU BoNT-A. The mean final follow-up was 25.5 weeks (range, 4-92 months). CONCLUSIONS: The present study provides evidence that a pretarsal BoNT-A injection is an effective and safe treatment for the correction of symptomatic epiblepharon in patients younger than 2 years of age.

[Management of upper eyelid retraction associated with dysthyroid orbitopathy during the acute inflammatory phase with botulinum toxin type A]. / Traitement de la rétraction palpébrale supérieure associée à l'ophtalmopathie dysthyroïdienne en phase active inflammatoire avec l'injection de toxine botulique A.

PURPOSE: To evaluate the efficacy of transconjunctival botulinum toxin type A (BTX-A) in the treatment of upper eyelid retraction in the active inflammatory phase of dysthyroid orbitopathy, establish the ideal dose, and evaluate side effects. METHODS: This is a comparative, prospective study in patients with thyroid orbitopathy, conducted at the Conde Ophthalmology Institute in Valenciana, Mexico. The patients included had dysthyroid orbitopathy in the inflammatory phase, and they were treated with subconjunctival injection of botulinum toxin type A (BTX-A) in the upper eyelid. Five units (group 1) and ten units (group 2) of BTX-A, in a single subconjunctival dose were applied to the non-dominant eye. We evaluated visual acuity, margin-to-reflex distance (RPM1), crease height, ocular motility, diplopia and keratitis, before and after administration of the toxin. The patients were followed at one, 4 and 16 weeks, with the Student t-test as a statistical analysis. RESULTS: At week 4, 15 patients (100%) showed a reduced margin to reflex distance. The mean result for group 1 was -1.75mm (range -1 to -2.5mm) and group 2 was -2mm (range -1 to -4mm). Statistically significant differences were seen between pre-treatment and week 4 in both groups, but no differences between doses. Complete improvement of keratitis and lagophthalmos was observed in 5 and 2 patients, respectively. Visual acuity, ocular motility and crease height did not change in 93% of the patients. One patient (group 1) exhibited complete ptosis and vertical diplopia, which resolved spontaneously at week 6. CONCLUSION: Transconjunctival BTX-A application is safe and effective for the treatment of eyelid retraction in dysthyroid orbitopathy. No difference was found between doses. No severe side effects were reported.

Granulomatosis with polyangiitis confined to lacrimal gland, a case report. / Granulomatosis con poliangeítis localizado en la glándula lagrimal, a propósito de un caso.

CLINICAL CASE: A 43 year-old woman consulted due to 2 months of swelling on the superolateral side of the left orbit, with pain and erythema. An excisional biopsy was performed that revealed vasculitis with polyangiitis of the lacrimal gland. A systemic study showed that no other system was compromised. DISCUSSION: Orbital involvement occurs in up to 60% of patients with granulomatosis with polyangiitis. The involvement of the lacrimal gland is rare and often unilateral. Serological tests are generally negative, both in initial stages, as in localized forms of the disease.

Evisceration surgery in a highly specialized center in Mexico: A retrospective study of 7 years of experience. / Cirugía de evisceración ocular en un centro de alta especialidad en México: estudio retrospectivo de 7 años de experiencia.

INTRODUCTION: Evisceration is currently becoming the technique of choice in the treatment of certain eye diseases, including, among others, painful blind eye and endophthalmitis. The most widely used implants are currently the hydroxyapatite and porous polyethylene for the rehabilitation of the anophthalmic socket. OBJECTIVE: To describe the indications, type of implant material used, and complications in evisceration surgery. METHODS: A retrospective, observational, descriptive study based on clinical records of patients that underwent evisceration between 2008 and 2015 in the Instituto Fundación Conde de Valenciana, Mexico. RESULTS: A total of 186 evisceration surgeries were performed, of which 52.7% of the patients were men. The mean age was 54 years. The right eye was eviscerated in 53% of cases, and 79.2% had a vision of no light perception. Most patients had preoperative pain. The most common diagnosis for which evisceration was performed was endophthalmitis. Phthisis bulbi was reported in 20 eyes. A primary implant was inserted in 86.81% of the cases, with 34.81% of the implants being made of porous polyethylene. Four cases showed extrusion of the implant, with 2 cases of porous polyethylene. The ocular prosthesis was tolerated in 91% of cases. There were no cases of sympathetic ophthalmia. CONCLUSION: Evisceration is shown to be a good alternative to enucleation in cases where the sclera can be preserved, showing a low incidence of sympathetic ophthalmia.

Orbital ossifying fibroma: A case report. / Fibroma osificante orbitario, a propósito de un caso.

CLINICAL CASE: The case concerns a 34 year-old man, who presented with pain in the medial canthus in his left eye, with proptosis and diplopia. The examination showed exophthalmus and a palpable mass at the inner canthus. The computed tomography revealed a lesion, which was confirmed by biopsy to be a ossifying fibroma. DISCUSSION: Ossifying fibroma is a benign fibro-osseous lesion that mostly affects the jaw. Clinical presentation and complications vary according to its location. Clinical examination, imaging, and histopathology are essential for definitive diagnosis. Surgical treatment is multidisciplinary and long-term follow up is needed.

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

BACKGROUND/AIMS: Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC. SOX2 and OTX2 are the two most commonly mutated genes in monogenic MAC. However, as more numerous samples of MAC subjects would be analysed, a better estimation of the actual involvement of specific MAC-genes could be made. Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects. METHODS: PCR amplification and direct automated DNA sequencing of all five genes in 50 unrelated subjects. RESULTS: Eight mutations (16% prevalence) were recognised, including four GDF6 mutations (one novel), two novel RAX mutations, one novel OTX2 mutation and one SOX2 mutation. Anophthalmia and nanophthalmia, not previously associated with GDF6 mutations, were observed in two subjects carrying defects in this gene, expanding the spectrum of GDF6-linked ocular anomalies. CONCLUSION: Our study underscores the importance of genotyping large groups of patients from distinct ethnic origins for improving the estimation of the global involvement of particular MAC-causing genes.

Orbital and periorbital infections.

Infections of the orbit and periorbital tissues are not uncommon. Trauma, skin infections, and sinusitis are frequently the underlying cause. Studies have shown changes in epidemiology and pathogens in the last decade. Although classical manifestations are usually present, atypical cases without specific signs and symptoms may confound the diagnosis. A high index of suspicion, aided by ultrasonography, computed tomography, and magnetic resonance imaging, is frequently required for an accurate diagnosis. Prompt diagnosis and treatment may lead to resolution of the infection, thus avoiding ocular sequelae. Orbital infections may spread into the globe, causing endophthalmitis. Some patients may even need an enucleation or evisceration. New materials and techniques may improve the final result of an anophthalmic socket.

Ocular manifestations of giant cell arteritis.

Giant cell arteritis is a systemic disease that can have devastating ophthalmic consequences. New insights into the epidemiology and pathophysiology of the disease may improve early diagnosis and treatment.