Quiste congénito del conducto nasolacrimal/dacrio-cistocele: causa de dacriocistitis no diagnosticada / Congenital cyst of nasolacrimal duct/dacriocistocele: cause of non-diagnosed dacriocistitis

RESUMEN Se presenta dos casos de pacientes menores de 5 meses los cuales durante las primeras semanas de vida presentan descarga ocular muco-purulenta de manera recurrente. Posteriormente en la endoscopia se encuentra en los dos casos masas quísticas intranasales dando un diagnóstico de dacriocistocele más quiste congénito del conducto nasolagrimal. El dacriocistocele es una causa muy rara de obstrucción del conducto nasal y más raro cuando viene acompañado de un quiste congénito del conducto nasolagrimal. Debido a su rareza y a su sintomatología muchas veces atípica resulta en un diagnóstico complicado para el otorrinolaringólogo y para el oftalmólogo.

ABSTRACT Two cases of patients younger than 5 months are presented, who during the first weeks of life have recurrent muco-purulent ocular dis-charge. Subsequently, in endoscopy, in both cases, intranasal cystic masses were found, resulting in a diagnosis of dacryocystocele plus congenital cyst of the lacrimal duct. Dacryocystocele is an uncommon cause of nasal duct obstruction, but it becomes less common when accompanied by a congenital tear duct cyst. Due to its uncommonness and its often-atypical symptoms, it results in a complicated diagnosis for the ENT and the ophthalmologist.

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.

PURPOSE: Keratoconus (KTCN) is a degenerative disorder of the eye that is characterized by a conical shape and thinning of the cornea, resulting in impaired visual function. Previously, we identified heterozygous single base-pair substitutions in DOCK9, IPO5, and STK24, showing concurrent 100% segregation with the affected phenotype in an Ecuadorian family. As the pathogenic consequences of these variants were not obvious, we performed in vitro splicing analyses to determine their functional significance. METHODS: We generated expression constructs using patient DNA as a template corresponding to the wild-type and mutant alleles of DOCK9, IPO5, and STK24. After transfecting HeLa cells with each construct, total RNA samples were extracted, reverse transcribed, and amplified using specific primers. RESULTS: In vitro splicing analysis revealed that only c.2262A>C in exon 20 of DOCK9 led to aberrant splicing, resulting in the changed ratio between two protein isoforms: a normal transcript and a transcript with exon skipping. The exon skipping causes a premature stop codon, disrupting the functional domains of DOCK9 protein, which may alter the biological role of DOCK9 as a Cdc42 activator. CONCLUSIONS: Based on in vitro results, we demonstrated that c.2262A>C substitution in DOCK9, previously identified in KTCN-affected members of an Ecuadorian family, leads to a splicing aberration. However, because the mutation effect was observed in vitro, a definitive relationship between DOCK9 and KTCN phenotype could not be established. Our results indicate that further elucidation of the causes of KTCN is needed.

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

PURPOSE: Keratoconus (KTCN) is a thinning and anterior protrusion of the cornea that results in altered refractive powers and loss of visual acuity. Despite numerous studies, the reasons for development and progression of KTCN remain unknown. Genetic studies have led to identification of several loci linked with KTCN, including a locus in one multigenerational Ecuadorian family. The purpose of this study was to identify sequence variants in candidate genes segregating with the KTCN phenotype in another Ecuadorian family. METHODS: Nonparametric linkage analysis was performed in Ecuadorian family KTCN-019. Candidate genes IL1A, IL1B, IL1RN, and SLC4A11 were selected and examined in this family by direct sequencing of all exons, promoters, and intron-exon junctions. RESULTS: Two novel suggestive loci were identified in 2q13-q14.3 and 20p13-p12.2. Screening of the candidate genes revealed 66 sequence variants, including five novel variants, in both coding and noncoding regions. The substitution c.214+242C > T in the IL1RN gene was observed in all affected individuals and three apparently unaffected family members. The novel deletion of 54 nucleotides in position c.2558+149_2558+203 in SLC4A11 was observed in all patients but one, as well as two healthy individuals and one person with an unknown phenotype. CONCLUSIONS: The analyses of selected genes have led to identification of numerous sequence variants in the examined Ecuadorian family. Both substitution c.214+242C > T in IL1RN and novel deletion c.2558+149_2558+203del54 in SLC4A11 were observed significantly more frequently in family members with KTCN (P = 0.004525 and P = 0.00761, respectively), suggesting involvement of these two genes in KTCN etiology in the studied family.

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

PURPOSE: Keratoconus (KTCN) is a non-inflammatory, usually bilateral disorder of the eye which results in the conical shape and the progressive thinning of the cornea. Several studies have suggested that genetic factors play a role in the etiology of the disease. Several loci were previously described as possible candidate regions for familial KTCN; however, no causative mutations in any genes have been identified for any of these loci. The purpose of this study was to evaluate role of the collagen genes collagen type IV, alpha-1 (COL4A1) and collagen type IV, alpha-2 (COL4A2) in KTCN in Ecuadorian families. METHODS: COL4A1 and COL4A2 in 15 Ecuadorian KTCN families were examined with polymerase chain reaction amplification, and direct sequencing of all exons, promoter and intron-exon junctions was performed. RESULTS: Screening of COL4A1 and COL4A2 revealed numerous alterations in coding and non-coding regions of both genes. We detected three missense substitutions in COL4A1: c.19G>C (Val7Leu), c.1663A>C (Thr555Pro), and c.4002A>C (Gln1334His). Five non-synonymous variants were identified in COL4A2: c.574G>T (Val192Phe), c.1550G>A (Arg517Lys), c.2048G>C (Gly683Ala), c.2102A>G (Lys701Arg), and c.2152C>T (Pro718Ser). None of the identified sequence variants completely segregated with the affected phenotype. The Gln1334His variant was possibly damaging to protein function and structure. CONCLUSIONS: This is the first mutation screening of COL4A1 and COL4A2 genes in families with KTCN and linkage to a locus close to these genes. Analysis of COL4A1 and COL4A2 revealed no mutations indicating that other genes are involved in KTCN causation in Ecuadorian families.

Frequency of the superior rectus muscle overaction/contracture syndrome in unilateral fourth nerve palsy.

INTRODUCTION: Superior oblique palsy is accompanied in most cases by overaction of the muscle's ipsilateral antagonist, the inferior oblique muscle. Overaction and contracture of the ipsilateral superior rectus muscle in patients with unilateral fourth (trochlear) nerve palsy is seldom discussed in the literature. The purpose of this study is to evaluate the frequency of superior rectus muscle overaction/contracture syndrome in patients with unilateral trochlear nerve palsy. SUBJECTS AND METHODS: The records of 198 patients with unilateral trochlear nerve palsy examined by the authors between July 1987 and July 2008 were reviewed retrospectively. All patients underwent complete eye examination with measurement of the deviation in the 9 positions of gaze and with the head tilted to both sides in all cooperative patients. Selection criteria for superior rectus muscle overaction/contracture syndrome in these patients were as follows: vertical deviation of 15(Delta) or larger in primary position, equal or larger hypertropia with the ipsilateral forced tilt test than with the eyes looking straight ahead, more than 5(Delta) hypertropia of the affected eye in horizontal gaze to the same side, hypertropia in all upgazes, and overaction of the contralateral superior oblique muscle. RESULTS: Of 198 patients, 33 (16.6%) met the selection criteria for superior rectus muscle overaction/contracture syndrome. CONCLUSIONS: Superior rectus muscle overaction/contracture syndrome frequently occurs in unilateral superior oblique palsy.

Actinic conjunctivitis in children: Clinical features, relation to sun exposure, and proposed staging and treatment.

BACKGROUND: Actinic conjunctivitis is an ocular photosensitivity reaction found mainly in children in certain populations in the Andean regions of South America, Mexico, and in the southwestern United States. Its clinical features, treatment, and possible relation to duration of sun exposure have not been fully described in the ophthalmologic literature. METHODS: A 20-member ophthalmic team traveled to an Andean region of Ecuador to provide ophthalmic care to children. All children with conjunctivitis were examined. A novel 3-stage classification of actinic conjunctivitis, devised by one of the authors, was used to stage the disease. The parents of each child with actinic conjunctivitis were asked how much time the child spent outside. Histopathological evaluations were performed on children who underwent surgery. RESULTS: A total of 206 children were examined, of whom 36 had changes consistent with actinic conjunctivitis. Stage 1 disease was diagnosed in 17 children, stage 2 in 9, and stage 3 in 10 in the most severely affected eye. The amount of time the child spent outside correlated with disease severity (r = 0.77, p < 0.001). Histopathologic samples showed an intense inflammatory response with hyperplasia of the vascular endothelium, pigmentary migration, and occasional eosinophilia. CONCLUSIONS: Actinic conjunctivitis is prevalent among children of the highlands of Ecuador. Although it has an allergic component, our data suggest that the severity of the disease is significantly associated with sun exposure. The finding that the lesions are found only in the exposed conjunctiva supports the hypothesis that UV exposure is the main cause of the disease.

La estructura académica del sistema educativo analizada a partir de los contenidos de la enseñanza: la educación secundaria durante las primeras décadas del siglo XX / The academic structure of educational system analyzed from the contents: secondary education during the first decades of the 20th century

En este artículo se presentan los resultados obtenidos en la segunda etapa de investigación, en la cual se reconstruye la evolución histórica de la estructura académica del sistema educativo nacional a partir de la organización que adquirió la enseñanza secundaria. En este sentido se realiza una definición conceptual de la estructura académica como un indicador clave para canalizar la distribución de saberes socialmente significativos en la sociedad. Conjuntamente se elucidan los términos de modalidades educativas y sus expresiones organizativas en las políticas educativas instrumentadas hasta la década de 1940 por el Estado argentino. De esta forma, en este artículo se describe la evolución que tuvo la educación secundaria en sus diferentes ofertas educativas durante la parte del siglo XX en el marco de los debates políticos que atravesaron las políticas educativas que el Estado argentino instrumentó. Se describen y analizan las reformas proyectadas y se interpretan algunos de sus alcances más significativos.

La investigación científica como parte de las políticas de formación docente en la Argentina: la situación en dos jurisdicciones / Scientific research Into teacher training policies In Argentina: the state of two provinces

En este artículo se presentan los primeros análisis realizados en el marco de un proyecto de investigación acreditado por la ANCPyT y que aborda el estudio de los aspectos más novedosos dentro de las transformaciones de la formación docente operados en los últimos diez años: la introducción de actividades de investigación dentro de los institutos superiores de formación docente (ISFD). En tal sentido, en este artículo se describen y cuestionan el espacio y el rol asignado a la investigación científica en las reformas llevadas adelante en el sistema educativo desde los años 90’, sus antecedentes, la concepción de investigación que subyace en la normativa y las transformaciones a que ella ha dado lugar en el nivel nacional. En consecuencia, se ofrecen los primeros resultados del estudio acerca de las políticas implementadas por la provincia de Buenos Aires y por el Gobierno de la Ciudad de Buenos Aires.

La estructura académica del sistema educativo analizada a partir de los contenidos de la enseñanza: la educación básica durante las primeras décadas del siglo XX / The academic structure of educational system analyzed from the contents: basic education during the first decades of the 20th century

En este artículo se presentan los resultados obtenidos en la segunda etapa de investigación, en la cual se reconstruye la evolución histórica de la estructura académica del sistema educativo nacional a partir de la organización que adquirió la enseñanza secundaria. En este sentido se realiza una definición conceptual de la estructura académica como un indicador clave para canalizar la distribución de saberes socialmente significativos en la sociedad. Conjuntamente se elucidan los términos de modalidades educativas y sus expresiones organizativas en las políticas educativas instrumentadas hasta la década de 1940 por el Estado argentino. De esta forma, en este artículo se describe la evolución que tuvo la educación secundaria en sus diferentes ofertas educativas durante la parte del siglo XX en el marco de los debates políticos que atravesaron las políticas educativas que el Estado argentino instrumentó. Se describen y analizan las reformas proyectadas y se interpretan algunos de sus alcances más significativos.

PowerRefractor versus Canon R-50 Autorefraction to assess refractive error in children: a community-based study in ecuador.

PURPOSE: To compare the agreement of the PowerRefractor with Canon R-50 autorefraction for measuring refractive error in a community of Ecuadorian children. METHODS: We examined 1564 children aged 5 to 6 years from two ethnically and geographically similar regions of the Ecuadorian highlands. Results of a refraction obtained without cycloplegia with the PowerRefractor and with the Canon R-50 autorefractor (NCAR) were compared with the gold-standard examination, cycloplegic autorefraction (CAR) with the Canon R-50 autorefractor. Power vectors were used to analyze refractive error. Bland-Altman limits of agreement were obtained. RESULTS: Although the mean difference in the spherical equivalent refractive error between the PowerRefractor and CAR was small (-0.03 D +/- 0.05 D), the 95% limits of agreement were wide (+/-2.03 D). On the other hand, NCAR showed a greater bias (0.97 D +/- 0.04 D) and smaller limits of agreement (+/-1.49 D). The limits of agreement of the PowerRefractor were also wider than NCAR for measuring astigmatism. When the mean difference was stratified by the subgroups of refractive error vectors, the PowerRefractor was found to have poorer limits of agreement than NCAR for hyperopic defects. CONCLUSION: The PowerRefractor is accurate, but not as precise for measuring refractive error as compared to the Canon R-50 autorefractor, especially for high hyperopia.

Tratamiento quirúrgico del estrabismo sensorial: cirugía bilateral vs cirugía unilateral / Surgical treatment of sensory strabismus: bilateral surgery vs. unilateral surgery

Introducción: la disrupción de la fusión por disminución de la agudeza visual en uno o en ambos ojos puede generar un estrabismo sensorial en cualquier edad de la vida. El tratamiento inicial propuesto por muchos autores para estos casos es la cirugía correctora sobre el ojo de menor agudeza visual, dejándose la cirugía del ojo fijador para una segunda instancia en casos de hipocorrecciones o recidivas. En este trabajo se comparan dos series de pacientes con estrabismo sensorial, los que fueron operados bilateralmente y los que recibieron cirugía en un solo ojo. Materiales y métodos: 118 historias clínicas de pacientes con diagnóstico de estrabismo sensorial rebasadas entre 1987 y 2005 fueron analizadas retrospectivamente. Se establecieron dos grupos de pacientes, los operados en forma bilateral y los operados unilateralmente. Fueron considerados: las características de la desviación, la presencia y características del tortícolis, el ángulo de desviación postoperatorio en ppm, la cantidad de músculos horizontales operados, el seguimiento logrado en cada grupo y las complicaciones verificadas. Resultados: de los 118 pacientes, 43 (36,4 por ciento) presentaron esotropia (ET), 74 presentaron exotropia (XT) (62,7 por ciento) y en uno solo predominó la desviación vertical (DV) (0,9 por ciento). 63 de los 118 pacientes fueron operados, 49 pacientes fueron operados bilateralmente (77,8 por ciento) y 14 en forma unilateral (22,4 por ciento). Se utilizaron suturas ajustables en 22 de los casos bilateralmente tratados y en 6 de los operados unilateralmente. Se determinó un subgrupo de pacientes con un seguimiento de al menos 6 meses, que incluyó 28 casos, de los que 19 recibieron cirugía bilateral y 9 unilateral. Del total, 53 (84 por ciento) pacientes quedaron alineados dentro de las 10 DP, y correspondieron a 41 cirugías bilaterales (83 por ciento de los operados en AO) y 12 cirugías unilaterales (85 por ciento de los operados en un único ojo)

Disruption of fusion as a result of loss or impairment of vision at any age could cause strabismus that is called sensory o secondary. Most authors propose to operate initially on the visually impaired eye, and only in case of unsuccessful result of the first procedure, perform surgery on the fixating eye. In this paper two series of patients have been compared, those operated on both eyes and those operated on the deviated eye. Methods: 118 medical record of patients with diagnosis of sensory strabismus performed between 1987 and 2005 have been reviewed. Parameters considered were: characteristics of the deviation, characteristics of the abnormal head position, postop angle of deviation en primary position, amount of operated muscles, follow up and surgical complications. Another subgroup was established including patients with follow up longer than 6 months. Results: Of the 118 patients, 43 (36,4 percent) had esotropia (ET), 74 had exotropia (XT) (62,7 percent) and one had mainly vertical deviation (DV) (0,9 percent) 63 of the 118 patients were operated; 49 on both eyes (77,8 percent) and 14 on the deviated one (22,4 percent). Adjustable sutures were used in 28 cases. 28 cases had follow up longer than 6 months, 19 were bilateral surgeries and 9 unilateral. We considered the treatment successful when orthotropia +/- 10 DP was achieved. 53 patients (84 percent) achieved successful alignment, 40 were bilateral surgeries (83 percent of the operated on both eyes) and 12 unilateral surgeries (85 percent of the operated on one eye). Of the 28 patients with follow up of more than 6 months, 24 (82 percent) had successful surgeries; 8 were unilateral surgeries and 16 were bilateral. Discussion: we found no differences in the postop amount of deviation in primary position between the two groups. No complications during or after surgery were reported. Sensory strabismus surgery may be performed on one or both eyes to achieve good alignment

Trastornos de la motilidad ocular en una población de niños escolares de la Sierra Ecuatoriana / Ocular motility disorders in a population of school children in the Sierra Ecuatoriana

Propósito: El objetivo del siguiente trabajo fue el de determinar la prevalencia y los distintos tipos de trastornos de la motilidad ocular en una población escolar de la sierra ecuatoriana. Material y métodos: Se examinaron 6143 niños de entre 4 y 16 años de edad de dos áreas geográficas étnicamente similares de la Sierra del Ecuador. De la población examinada, 2775 fueron de sexo femenino y 3368 de sexo masculino. A cada niño se le efectuó un examen oftalmológico que comprendía: inspección, estudio de la motilidad ocular, reflejos pupilares, estereopsis, agudeza visual sin corrección y con corrección en aquellos niños portadores de lentes, examen de ojo externo, autorrefractometria y videorrefractometria. Se efectuó autorrefractometria con cicloplejia y examen de fondo de ojo a todos los niños con niveles de agudeza visual menor a 0.8 en alguno de sus ojos, a todos los niños entre 4 y 6 años y en forma randomizada al 10 por ciento del total de los niños. El examen de la motilidad ocular consistió en evaluación de la excursión ocular hacia las 9 posiciones de la mirada, Cover test para lejos y cerca con y sin corrección, test de Hirschberg y determinación de la presencia o no de un tortícolis. Resultados: De los 6143 niños examinados 371 (6 por ciento) presentaba algún trastorno en su motilidad ocular. Estrabismos latentes (forias) fueron encontrados en 253 niños (4.11 por ciento). De ellos, 249 casos tenían exoforias y solo 4 presentaron endoforias. Esotropias pudieron observarse en 22 niños (0.35 por ciento). Exotropias se presentaron en 17 de los niños examinados (0.27 por ciento). Se presentaron 8 casos con anisotropía en V e hiperfunción de oblicuos inferiores y 55 pacientes con anisotropía en Y sin disfunción de músculos oblicuos. Dos pacientes presentaron desviación vertical disociada. Presentaron nistagmus sin estrabismo 5 niños y parálisis del IV nervio pudieron observarse en 2 casos

Purpose: The purpose of this paper is to determine the prevalence and different types of ocular motility disorders in a population of school children of the Highlands of Ecuador. Patient and Methods: 6143 children with ages between 4 and 16 where examined in two etnically similar areas of the Highland region of Ecuador. 2775 where females and 3368 males. Every child underwent an opthalmological examination that included: Inspection, evaluation of ocular motility, pupilar reflexes, stereopsis, visual acuity without correction and with correction in all the children wearing glasses, external examination, autorrefractometry and videorrefractometry. Autorrefractometry with cycloplegia and retinal examination were performed in all children with vision levels less than 0.8 in a least one eye, to ocular motility evaluation consisted in assement of the eyes excursion in all 9 positions, of gaze Cover test for distance and near, Hirschber test and determining the presence of an anomalous head posture. Results: Of the 6143 children evaluated, 371 (6 percent) presented with some type of ocular motility disturbance. Of theses, 253 (4.11 percent) where latent strabismus. 249 suffered from exophorias and only 4 had esophoses. There where 8 children with V pattern and overaction of inferior obliques and 55 with Y pattern and no disfuction of oblique muscle.

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

PURPOSE: To determine the role of cytochrome P450IBI (CYP1B1) mutations in causing primary congenital glaucoma (PCG) in a cohort of Native Americans from Quito, Ecuador. MATERIALS AND METHODS: Seventeen patients with PCG from 15 Native American families were recruited from the Ophthalmology Clinic at Hospital Metropolitano, Quito, Ecuador. Experienced ophthalmologists examined all affected study subjects. Purified DNA was prepared from peripheral blood samples and CYP1B1 coding exons (exons 2 and 3) were amplified and sequenced. Southern blot was performed only on those affected patients who showed no mutations in the CYP1B1 coding exons. RESULTS: The molecular basis of PCG in two families was determined: two novel mutations (a deletion and a point mutation) and one novel polymorphism in CYP1B1 were identified in addition to a previously described single amino acid substitution. Southern blot analyses on whole genomic DNA from affected individuals in whom no mutations were identified by the direct PCR/sequencing approach did not detect any large rearrangements or mutations outside the coding region. CONCLUSION: These findings suggest that mutations in CYPIBI are not a major cause of PCG in this population and that at least one additional locus for this condition is responsible for most cases. Further, the PCG phenotype did not correlate readily with the molecular basis of the disorder, suggesting that careful clinical analysis of the phenotype cannot predict the molecular basis of the disease with accuracy.

Teniasis y Cisticercosis en el Ecuador / Teniasis and Cisticercosis in Ecuador

Analiza la evolución de la teniasis y la cisticercosis humana en el Ecuador desde el punto de vista epidemiológico. Expone los factores de riesgo y circunstancias sanitarias del país que favorecen la infección. Finalmente, presenta información sobre los planes, programas y campañas nacionales para la prevención y control de estas enfermedades...