[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.

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.

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.