Correlación entre especies del género Demodex en chalaziones primarios y recurrentes / Correlation between Demodex species in primary and recurrent chalazia

Objetivo: Determinar la correlación entre la infestación por especies de Demodex y la ocurrencia de chalaziones primarios y recurrentes. Métodos: Estudio prospectivo y observacional. Se incluyeron pacientes con chalaziones primarios o recurrentes. Se tomó muestra de pestañas para determinar la presencia microscópica de Demodex spp. Se determinó la correlación entre la recurrencia del chalazión y la infestación por ácaros Demodex spp. mediante la prueba del coeficiente de correlación de rangos de Spearman. Resultados: Se incluyeron 68 pacientes adultos con diagnóstico de chalazión. En 63,2% del total de los casos se documentó la presencia de uno o más parásitos del género Demodex spp. En el estudio parasitológico cuantitativo se encontró que el 25% de todos los casos presentó infestación por Demodex spp. definida por un índice superior o igual a 0,5 parásitos por pestaña. La especie más frecuentemente encontrada fue Demodex folliculorum. De los 14 pacientes con chalazión recurrente el 50% presentó infestación por Demodex spp. y en el 91,7% de los casos la infestación fue por Demodex folliculorum. Existe una correlación positiva y directamente proporcional de (rø=+0,665; p<0,05) entre estos factores. De los pacientes con chalazión primario, solo 18,5% presentaron infestación por Demodex spp., y en el 81,6% de ellos fue causada por Demodex folliculorum. No existe una correlación significativa entre estos factores. Conclusión: Existe una correlación directa, alta y estadísticamente significativa entre la recurrencia del chalazión y la infestación por Demodex spp., no existe una correlación estadísticamente significativa entre los chalaziones primarios y la presencia de Demodex spp.(AU)

Objective: To determine the correlation between the infestation by species of Demodex spp. and the occurrence of primary and recurrent chalazia. Methods: Prospective and observational study. Patients with primary or recurrent chalazia were included. Eyelash samples were taken to determine the microscopic presence of Demodex spp. The correlation between the recurrence of the chalazia and the infestation by Demodex spp. mites was determined using Spearman's rank correlation coefficient test. Results: Sixty-eight adult patients diagnosed with chalazia were included. In 63.2% of the total cases, the presence of one or more parasites of the genus Demodex spp. was documented. In the quantitative parasitological study, it was found that 25% of all cases presented infestation by Demodex spp. defined by an index greater than or equal to 0.5 parasites per eyelash. The most frequently found species was Demodex folliculorum. Of the 14 patients with recurrent chalazia, 50% presented infestation by Demodex spp. and in 91.7% of the cases the infestation was by D. folliculorum. There is a positive, directly proportional correlation between these factors (rθ=+0.665, P<.05). In the group of patients with primary chalazion, only 18.5% presented infestation by Demodex spp., and in 81.6% of these cases it was caused by D. folliculorum. There is a non-statistically significant correlation between these two factors. Conclusion: There is a direct, high and statistically significant correlation between the recurrence of the chalazion and the infestation by Demodex spp., there is no statistically significant correlation between the primary chalazia and the presence of Demodex spp.(AU)

Correlation between Demodex species in primary and recurrent chalazia.

OBJECTIVE: To determine the correlation between the infestation by species of Demodex spp. and the occurrence of primary and recurrent chalazia. METHODS: Prospective and observational study. Patients with primary or recurrent chalazia were included. Eyelash samples were taken to determine the microscopic presence of Demodex spp. The correlation between the recurrence of the chalazia and the infestation by Demodex spp. mites was determined using Spearman's rank correlation coefficient test. RESULTS: Sixty-eight adult patients diagnosed with chalazia were included. In 63.2% of the total cases, the presence of one or more parasites of the genus Demodex spp. was documented. In the quantitative parasitological study, it was found that 25% of all cases presented infestation by Demodex spp. defined by an index greater than or equal to 0.5 parasites per eyelash. The most frequently found species was Demodex folliculorum. Of the 14 patients with recurrent chalazia, 50% presented infestation by Demodex spp. and in 91.7% of the cases the infestation was by D. folliculorum. There is a positive, directly proportional correlation between these factors (rθ=+0.665, P<.05). In the group of patients with primary chalazion, only 18.5% presented infestation by Demodex spp., and in 81.6% of these cases it was caused by D. folliculorum. There is a non-statistically significant correlation between these two factors. CONCLUSION: There is a direct, high and statistically significant correlation between the recurrence of the chalazion and the infestation by Demodex spp., there is no statistically significant correlation between the primary chalazia and the presence of Demodex spp.

Teratoma orbitario maduro congénito: reporte de un caso / Congenital mature orbital teratoma: A case report

Los teratomas son neoplasias gonadales o extragonadales, derivadas de los tres tejidos embrionarios, compuesto de células germinales del neuroectodermo, del mesodermo y del ectodermo. El teratoma orbitario congénito (TOC) afecta comúnmente a la órbita izquierda, predominando en mujeres sobre hombres a razón 2:1. Se presenta el caso de un paciente femenino de 9días de vida extrauterina con un teratoma orbitario congénito maduro izquierdo, intervenida por el servicio de órbita y oculoplástica, realizando una exenteración orbitaria y resección total de la masa tumoral (AU)

Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass (AU)

Congenital mature orbital teratoma: A case report.

Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9 days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass.

Oral selenium improved the disease activity in patients with mild Graves' orbitopathy.

BACKGROUND: Graves' orbitopathy (GO) is the most common extrathyroidal manifestation of Graves' disease (GD), an autoimmune disorder arising from the activity of T lymphocytes against antigens that infiltrate thyroid tissue, orbital tissue and extraocular muscles. An increase in oxidative stress has been discovered in autoimmune thyroid disease, encouraging investigation into new forms of treatment. Selenium has been described as a treatment option given its antioxidant properties. The present study evaluates the decrease of progression and inflammatory signs in patients with mild GO with oral selenium supplementation. METHODS: Controlled, randomized, single center trial at an ophthalmology referral center in Mexico City. Patients at least 18years of age with mild GO according to the CAS classification were included; exclusion criteria in addition to corticosteroid treatment included smokers or selenium allergy. Each patient was randomized into one of two groups. Group A took placebo tablets which consisted of 100µg of starch twice a day for 6months, and group B took a 100µg selenium tablet twice a day for 6months. The patients from both groups were examined and evaluated using a CAS score before and after the first, third and sixth month of treatment. RESULTS: Thirty eyes of 30 patients were studied. The pretreatment values showed no statistically significant differences between groups (P>0.05). Intergroup analysis showed statistically significant differences in palpebral fissure and CAS score between the pretreatment values and six months after treatment in the selenium group (P<0.05). No differences were found in any variables in the placebo group during the study period (P>0.05). No adverse events were reported. CONCLUSIONS: This is the first study in a Mexican population demonstrating that oral selenium decreases clinical activity and stops progression in patients with mild GO.

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

INTRODUCCIÓN: El epiblefaron es una malposición palpebral congénita ocasionada por un pliegue redundante de piel y músculo orbicular que invierte las pestañas hacia el globo ocular. OBJETIVO: Reportamos nuestra experiencia en la corrección no quirúrgica del epiblefaron sintomático usando una inyección en el músculo orbicular pretarsal de 5 unidades de toxina botulínica tipo A (TbA). MATERIAL Y MÉTODOS: Revisamos los expedientes de los pacientes menores de 2 años con epiblefaron tratados con TbA. Evaluamos los síntomas y los signos del epiblefaron, previo y posterior al tratamiento. RESULTADOS: Se incluyó a un total de 40 pacientes (28 niñas [70%]). La edad media de presentación fue 11 meses (rango 4-24). Se trataron 76 párpados con TbA. Obtuvimos una mejoría estadísticamente significativa de los síntomas, del contacto cilio corneal y de la afectación corneal tras la aplicación de 5 unidades de TbA. El periodo medio de seguimiento fue de 25,55 semanas (rango 4-92). CONCLUSIONES: Con este estudio demostramos que la aplicación de TbA es un tratamiento efectivo y seguro para la corrección del epiblefaron sintomático en niños 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

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.

¿Tuberculosis, granulomatosis con poliangeítis, o ambos? Caso clínico inusual / Tuberculosis, granulomatosis with polyangiitis, or both? A case report

Introducción: La tuberculosis (TB) es una infección granulomatosa crónica, y la granulomatosis con poliangeítis (GP) es una vasculitis de vaso pequeño, ambas pudiendo comprometer los pulmones. La asociación de estas es rara. Ambas tienen características similares, lo que dificulta el diagnóstico diferencial. Caso clínico: Mujer de 37 años, en tratamiento para TB pulmonar, que presentó proptosis ocular izquierda, edema y eritema de párpado y conjuntiva. La biopsia orbitaria reveló GP. Los anticuerpos anticitoplasma de neutrófilos se encontraban elevados. Se inició tratamiento inmunosupresor, con buena respuesta. Conclusión: La TB y la GP pueden asociarse. El diagnóstico debe incluir anticuerpos anticitoplasma de neutrófilos y también biopsia, para seleccionar el tratamiento preciso (AU)

Introduction: Tuberculosis (TB) is a chronic granulomatose infection, and granulomatosis with polyangiitis (GP) is a small vessel vasculitis, both of which affect the lungs. The combination of these diseases is rare. Both have similar clinical features, making the differential diagnosis difficult. Case report: It concerns a 37 year-old female undergoing treatment for pulmonary TB, who presented with left ocular proptosis, eyelid and conjunctival edema and erythema. Orbital biopsy revealed GP. C-Anti-neutrophil cytoplasmic antibodies were elevated. The patient responded well to immunosuppressive treatment. Conclusion: TB and GP can associate. Diagnosis should include not only C-anti-neutrophil cytoplasmic antibodies, but also a biopsy, in order to select the appropriate treatment (AU)

Tuberculosis, granulomatosis with polyangiitis, or both? A case report. / ¿Tuberculosis, granulomatosis con poliangeítis, o ambos? Caso clínico inusual.

INTRODUCTION: Tuberculosis (TB) is a chronic granulomatose infection, and granulomatosis with polyangiitis (GP) is a small vessel vasculitis, both of which affect the lungs. The combination of these diseases is rare. Both have similar clinical features, making the differential diagnosis difficult. CASE REPORT: It concerns a 37 year-old female undergoing treatment for pulmonary TB, who presented with left ocular proptosis, eyelid and conjunctival edema and erythema. Orbital biopsy revealed GP. C-Anti-neutrophil cytoplasmic antibodies were elevated. The patient responded well to immunosuppressive treatment. CONCLUSION: TB and GP can associate. Diagnosis should include not only C-anti-neutrophil cytoplasmic antibodies, but also a biopsy, in order to select the appropriate treatment.

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

Caso clínico: Mujer de 43 años, consulta por aumento de volumen orbitario superolateral izquierdo, doloroso, eritematoso de 2 meses de evolución. Se realiza biopsia escisional revelando vasculitis con poliangeítis de glándula lagrimal. El estudio sistémico no reveló compromiso de otros órganos. Discusión: El compromiso orbitario ocurre hasta en el 60% de los pacientes con granulomatosis con poliangeítis. La afección de la glándula lagrimal es rara, y frecuentemente unilateral. Las pruebas serológicas generalmente son negativas, tanto en etapas iniciales, como en las formas localizadas de la enfermedad (AU)

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 (AU)

[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.

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

INTRODUCCIÓN: En la actualidad la evisceración se está convirtiendo en la técnica de elección en el tratamiento de ciertas enfermedades oculares, como un ojo ciego doloroso, endoftalmitis, entre otras. Para la rehabilitación de la cavidad anoftálmica los implantes más utilizados actualmente son los de hidroxiapatita y polietileno poroso. OBJETIVO: Describir las indicaciones, tipo de material del implante utilizado y complicaciones en la cirugía de evisceración. MÉTODOS: Estudio retrospectivo, observacional, descriptivo, basado en expedientes clínicos de pacientes sometidos a evisceración entre 2008 y 2015 en el Instituto Fundación Conde de Valenciana. RESULTADOS: Se realizaron 186 cirugías de evisceración. El 52,7% de los pacientes eran hombres. El promedio de edad fue 54 años. El ojo derecho fue eviscerado en el 53% de los casos, el 79,2% presentaba una visión de no percepción de luz. La mayoría presentaba dolor preoperatorio.El diagnóstico más frecuente por el cual se realizó la evisceración fue endoftalmitis. Se reportaron 20 ojos en phthisis bulbi. En el 86,81% de los casos se colocó un implante primario. El 34,81% fue de polietileno poroso. Cuatro casos presentaron extrusión del implante, en 2 casos de polietileno poroso. La prótesis ocular fue tolerada en el 91% de los casos. No hubo casos de oftalmía simpática. CONCLUSIÓN: La evisceración se muestra como una alternativa a la enucleación en casos donde la esclerótica pueda preservarse, mostrando baja incidencia de oftalmía simpática

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

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.

Successful treatment of lower eyelid epiblepharon by injection of botulinum toxin A in patients under two years of age.

INTRODUCTION: Epiblepharon is characterized by a cutaneous horizontal fold adjacent to the lid margin. Some cases showed spontaneous resolution, others required surgical treatment. We propose a medical treatment with botulinum toxin type A (BTX-A). OBJECTIVE: To provide clinical evidence of the usefulness of botulinum toxin type A (BTX-A) in patients with lower eyelid epiblepharon. SUBJECTS AND METHODS: This was a prospective, non-randomized, nonmasked study. Patients with lower eyelid epiblepharon with corneal eyelash contact were included in the study. The scale proposed by Khwarg and Lee (1997) was used to assess the epiblepharon clinical evaluation. A single dose of 12.5 IU of BTX-A (Dysport ®) was directly injected into the medial pre-tarsal orbicularis muscle region in the lower eyelid. Patients were evaluated before the injection and at 1, 4, 12 and 24 weeks after the injection. We performed descriptive statistics and Wilcoxon Signed Rank Test, comparing prior injection measurements to post injection measurements at the 24th week. A p less than 0.05 was considered statistically significant. Each eye was separately analyzed. RESULTS: Fourteen eyes of seven Hispanic patients were treated, five female and two male. The mean age was 8.4 months (4 - 14 months). The height of the skin-fold, the area of the cornea touched by the cilia and the symptoms score improved after the first week of BTX-A injection and remained so until the end of study (p less than 0.05). No major complications were noted. CONCLUSION: The effect of a single 12.5 IU injection of BTX-A (Dysport ®) into the medial orbicularis muscle portion in the lower eyelid epiblepharon patients successfully improves the clinical signs and symptoms.

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by ptosis, dysphagia and limb weakness. The disease is caused by short heterozygous expansions of a (GCN)(10) triplet located in the first exon of the PABPN1 gene at chromosome 14q11.1. Most affected individuals from North America and Europe carry a mutant (GCN)(13) allele. Although evidence for a founder mutation effect has been shown in several populations with OPMD, analysis of large groups of patients from different ethnic backgrounds will help to identify the relative contribution of each allele to the disease and a possible genotype-phenotype correlation. METHODS: 22 unrelated patients with OPMD from Mexico, a previously uncharacterised population, were clinically and molecularly analysed. Detailed ophthalmological and clinical examinations were performed in each proband and molecular analysis of the PABPN1 gene was carried out by PCR amplification and allele-specific cloning/sequencing. Two single nucleotide polymorphisms (SNPs) linked to PABPN1 were determined in each individual and in a number of affected first-degree relatives. RESULTS: 15 subjects (68%) carried a mutant (GCN)(15) or (GCG)(11)(GCA)(3)(GCG) PABPN1 allele; the remaining 7 (32%) exhibited an abnormal (GCN)(13) or (GCG)(9)(GCA)(3)(GCG) allele. Analysis of two SNPs linked to PABPN1 strongly suggests that both expanded alleles originate from two independent founder effects. In addition, in this particular population the (GCN)(15) allele was associated with an earlier onset of the disease (mean 46.5 years) compared with the (GCN)(13) allele (mean 54.7 years). CONCLUSION: The results of this study suggest that OPMD in the Mexican population is mostly due to (GCG)(11) or (GCG)(9) PABPN1 expanded alleles arising from two independent founder effect mutations. These findings add to the definition of the genetic features of the disease and to the establishment of a probable genotype-phenotype correlation.

[Comparative study of amniotic membrane transplantation, with and without simultaneous application of mitomycin C in conjunctival fornix reconstruction]. / Estudio comparativo entre transplante de membrana amniótica con y sin aplicación simultánea de mitomicina c en reconstrucción de fondo de saco conjuntival.

OBJECTIVE: To describe the results of amniotic membrane (AM) transplantation, using the simultaneous application of 0.02% Mitomycin C (MMC), in conjunctival fornix reconstruction. MATERIAL: We compared two groups of patients: group A, who were treated only with AM and group B, in whom MMC (0.02%) was also applied. Operative technique used: In group A, the surgical procedure involved a careful removal of the cicatricial tissue, followed by AM transplantation. In group B, following the careful removal of the cicatricial tissue, 0.02% MMC was then applied to the surgical field for 60 seconds, and this was followed by extensive irrigation with saline solution. AM transplantation was then performed. We ultimately evaluated the depth of the conjunctival fornix and ocular motility. RESULTS: Group A: eleven eyes of eleven patients were evaluated. Seven had chemical injuries, three had traumatic symblepharon and one had Stevens-Johnson syndrome. In two cases a 7 mm or greater conjunctival fornix depth was observed. In four cases the ocular motility was better than -1. Group B: Twelve eyes of twelve patients were evaluated. Seven had chemical injuries, 2 had traumatic symblepharon and 3 had Stevens-Johnson syndrome. In nine cases a 7 mm or greater conjunctival fornix depth was obtained. In 9 cases the ocular motility restriction was resolved. Poor results of fornix reconstruction, as well as ocular motility, were observed in those patients with autoimmune diseases, irrespective of the treatment used. CONCLUSIONS: The simultaneous combination of AM and MMC results in better conjunctival fornix reconstruction than with the use of AM alone.