Efficacy of fitting HydroCone (Toris K) contact lenses for the visual rehabilitation of patients with posterior microphthalmos / Eficácia da adaptação de lentes de contato HydroCone (Toris K) para reabilitação visual de pacientes com microftalmia posterior

ABSTRACT Purpose: To evaluate the efficacy of soft HydroCone silicone hydrogel contact lenses in patients with posterior microphthalmos. Methods: The charts of 13 patients with posterior microphthalmos (26 eyes) who were fitted with soft HydroCone silicone hydrogel contact lenses were reviewed retrospectively. All the patients underwent assessments of uncorrected and best spectacle-corrected visual acuity and cycloplegic refraction. They were fitted with contact lenses according to the parameter values obtained from the topographical analysis and best contact lens-corrected visual acuity measurement. Results: The spherical equivalents of the right and left eyes ranged from 10.00 to 19.25 diopters and from 11.00 to 21.5 diopters, respectively. The mean axial and posterior chamber lengths were shorter than those of the age-matched population. However, the mean values of the anterior segment parameters such as horizontal visible iris diameter, central anterior chamber depth, lens thickness, and central corneal thickness were in the normal range. The mean keratometric measurements revealed increased corneal curvature compared with that in the normal population. The mean best contact lens-corrected visual acuity was significantly higher than the mean best spectacle-corrected visual acuity for both eyes (p=0.045). Conclusion: HydroCone silicon soft contact lenses provided better visual acuity than spectacles in the patients with posterior microphthalmos in this study.

RESUMO Objetivo: Avaliar a eficácia das lentes de contato gelatinosas HydroCone, de hidrogel com silicone, em pacientes com microftalmia posterior. Métodos: Foram revisados retrospectivamente 26 olhos com microftalmia posterior, a partir dos prontuários de 13 pacientes que receberam lentes de contato gelatinosas HydroCone, de hidrogel com silicone. Todos os pacientes foram submetidos ao exame de acuidade visual não corrigida e com melhor correção por óculos e com refração cicloplégica. Todos os pacientes receberam lentes de contato de acordo com os parâmetros obtidos na análise topográfica e foi obtida a melhor acuidade visual corrigida com lentes de contato. Resultados: O equivalente esférico do olho direito variou de 10,00 a 19,25 dioptrias, e o do olho esquerdo de 11,00 a 21,5 dioptrias. Os comprimentos médios axiais e das câmaras posteriores foram menores do que para a população de mesma idade. No entanto, os valores médios dos parâmetros do segmento anterior, como o diâmetro horizontal visível da íris, a profundidade da câmara anterior central, a espessura da lente e a espessura central da córnea estavam dentro da faixa normal. Os valores médios da ceratometria revelaram curvatura corneana aumentada em relação à população normal. A média da melhor acuidade visual corrigida com lentes de contato foi significativamente maior que a média da melhor acuidade visual corrigida com óculos em ambos os olhos (p=0,045). Conclusão: As lentes de contato gelatinosas de silicone HydroCone proporcionam melhor acuidade visual que óculos em pacientes com microftalmia posterior.

Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report / Manifestações oftalmológicas da Síndrome de Schuurs-Hoeijmakers: relato de caso

ABSTRACT This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation. The initial ophthalmological examination revealed hypertelorism, epicanthus, nystagmus, esotropia, and microcornea in the right eye. The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. Whole exome sequencing revealed evidence of a heterozygotic pathogenic variant in PACS1. The PACS1 pathogenic variant in association with the clinical findings confirmed the diagnosis of Schuurs-Hoeijmakers syndrome. To our knowledge, this is the first report to describe microcornea and microphthalmia as additional ocular manifestations of Schuurs-Hoeijmakers syndrome.

RESUMO Trata-se de um relato de caso de um paciente do sexo masculino de 2 anos de idade com atraso cognitivo, anormalidades faciais e microcórnea no olho direito encaminhado para investigação oftalmológica. O exame oftalmológico inicial evidenciou hipertelorismo, epicanto, nistagmo, esotropia e microcórnea no olho direito. O exame sob anestesia revelou microftalmia no olho direito e coloboma de íris, retina e nervo óptico em ambos os olhos. Foi realizado sequenciamento completo do exoma que mostrou uma variante patogênica heterozigótica no PACS1. A variante patogênica no PACS1 em associação com os achados clínicos apresentados confirmou o diagnóstico da síndrome de Schuurs-Hoeijmakers). Acredita-se este seja o estudo a descrever microcórnea e microftalmia como manifestações oculares adicionais da síndrome de Schuurs-Hoeijmakers.

CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review.

The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

Mutación del gen CTNNB1 asociada a alteración del neurodesarrollo, microcefalia y persistencia del vítreo primario hiperplásico bilateral: reporte de un caso y revisión de la literatura / CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review

La mayoría de los casos de persistencia de la vasculatura fetal (PVF) o persistencia del vítreo primario hiperplásico (PVPH) son de naturaleza unilateral y esporádica, sin embargo, podría tener presentación bilateral en un pequeño número de pacientes, en los cuales deben descartarse enfermedades genéticas. Describimos un caso de un lactante de dos meses en quien se observó hiperplasia del vítreo primario bilateral confirmada por ecografía. Además, cursaba con defectos del neurodesarrollo, microcefalia, dimorfismo facial, hipotonía axial, sin alteraciones cerebrales en resonancia magnética. En el estudio genético se encontró mutación de novo del gen CTNNB1, que explica los hallazgos.

The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review. / Mutación del gen CTNNB1 asociada a alteración del neurodesarrollo, microcefalia y persistencia del vítreo primario hiperplásico bilateral: reporte de un caso y revisión de la literatura.

The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.

Bilateral microphthalmos with bilateral orbital cysts: individualising the treatment according to the visual potential. A case report. / Microftalmia bilateral asociada con quistes orbitarios. Manejo individualizado según el potencial visual. Reporte de caso clínico.

The case is presented of a 3-month-old infant diagnosed with microphthalmos and orbital cysts. Magnetic Resonance Imaging revealed a bilateral microphthalmia with a moderate right cyst and a severe left cyst. Visual potential of the right eye was uncertain. Non-surgical treatment was decided. At the age of 2 years old, physical examination showed a significant decrease of the cysts and visual acuity of hand movements due to the residual vision of his right eye. Microphthalmos with orbital cyst is a rare congenital anomaly. Cysts tend to enlarge with time. At the moment, no standard protocol for the management of this pathology has been described. Unlike in our patient, visual acuity in these patients is usually of no-light perception. The observation could be an alternative in severe cases, since there is a possibility of spontaneous reduction, displacement, or regression of the cysts.

Microsomía hemifacial fetal: entendiendo el espectro fenotípico en el reporte de un caso / Fetal hemifacial microsomia: understanding the phenotypic spectrum in a case report

Hemifacial microsomia involves a broad spectrum of facial malformations of varying severity. Prenatal diagnosis rarely occurs and is usually related to severe cases or associated with other body malformations. We present a case of severe hemifacial microsomia with multiple gastrointestinal and cerebral malformations.

La macrosomía hemifacial involucra un amplio espectro de malformaciones faciales de diversa severidad. El diagnóstico prenatal es hecho excepcionalmente y habitualmente está relacionado a casos severos o con asociación a otras malformaciones corporales. Presentamos un caso de macrosomía hemifacial severa con malformaciones gastrointestinales múltiples y cerebrales.

Importancia de la neuroimagen en la anoftalmia/microftalmia congénita neonatal: a propósito de un caso / Importance of neuroimaging in neonatal congenital anophthalmia/microphthalmia: a case report

Introducción: La Anoftalmia/Microftalmia es una malformación ocular congénita que se caracteriza por la reducción variable del volumen del globo ocular, la misma requiere de estudios imagenológicos para un diagnóstico más preciso. Objetivo: Demostrar la importancia de la neuroimagen en el diagnóstico y orientación de la microftalmia/anoftalmia neonatal congénita bilateral. Presentación del caso: Se hace referencia a un recién nacido con diagnóstico clínico de anoftalmia/microftalmia de manera inicial que después de realizar estudios de neuroimagen se constataron otras malformaciones del sistema nervioso central que permitieron orientar el diagnóstico hacia un síndrome genético definido. Durante el examen físico inicial se constató hipertelorismo, orejas de implantación baja, fisura palatina, ano anterior y ausencia de los globos oculares en ambos lados. La Resonancia magnética nuclear mostró esbozos de cristalinos rudimentarios, ubicados en zona atípica y esbozo de nervio óptico incompleto del lado derecho. No se observaron globos oculares. Observándose además múltiples imágenes de aspecto quístico bilaterales en las áreas orbitarias que desplazan los cristalinos rudimentarios por conflicto de espacio. Este paciente requirió estudios de neuroimagen para determinar si se trataba de una anoftalmia/microftalmia y para orientar el diagnóstico de displasia septo-óptica que organizó el pensamiento clínico hacia un posible Síndrome de Morsier. En este caso se realizó diagnóstico diferencial con otras causas asociadas a estas malformaciones oculares. Conclusiones: Los estudios imagenológicos del cerebro de los pacientes con anoftalmia / microftalmia en la etapa neonatal permiten orientar un diagnóstico preciso y precoz que favorece una intervención multidisciplinaria temprana(AU)

Introduction: Anophthalmia/microphthalmia is a congenital eye malformation that is characterized by the variable reduction of the volume of the ocular globe, which requires imaging studies for a more precise diagnosis. Objective: To demonstrate the importance of neuroimaging in the diagnosis and management of neonatal congenital bilateral anophthalmia/microphthalmia. Case Presentation: We describe the case of a newborn with an initial clinical diagnosis of anophthalmia/microphthalmia in which, after carrying out neuroimaging studies, other malformations of the central nervous system were confirmed, allowing to guide the diagnosis towards a defined genetic syndrome. During the initial physical exam, hypertelorism, low set ears, palatine fissure, anterior anus, and absence of the ocular globes in both sides were verified. The magnetic resonance imaging showed signals of rudimentary crystalline located in an atypical area, and signals of incomplete optic nerve of the right side. Ocular globes were not observed. Multiple cyst-like bilateral images were also observed in orbital areas, displacing the rudimentary crystalline lens due to space limitations. Discussion: This patient required neuroimaging studies to determine if she had an anophthalmia/microphthalmia and present a guide for the diagnosis of septo-optic dysplasia that organized the clinical thinking towards a possible Morsier Syndrome. In this case, a differential diagnosis with other causes associated to these ocular malformations was made. Conclusions: The imaging studies of the brain of the patients with anophthalmia/microphthalmia in the neonatal period allows to guide a precise and early diagnosis that favors an early multidisciplinary intervention(AU)

Frequência da microftalmia associada à catarata congênita, sua frequência etiológica e o resultado visual pós-cirúrgico / Frequency and ethiological frequency of congenital cataract associated with microphthalmia and postoperative visual results

Resumo Objetivo: Determinar a frequência da microftalmia associada à catarata congênita e sua frequência etiológica. Comparar o resultado visual após a cirurgia da catarata congênita em olhos microftálmicos, com o resultado visual obtido em olhos não microftálmicos. Método: Estudo retrospectivo de 76 pacientes portadores de microftalmia e catarata congênita, selecionados após análise de 1050 prontuários dos pacientes atendidos no ambulatório de catarata congênita da UNIFESP. A microftalmia foi determinada pela ecobiometria ultrassonica. Exames oculares e complementares foram feitos para esclarecer a causa etiológica. O resultado visual pós- operatório do Grupo I (com microftalmia) foi confrontado com o resultado visual obtido no Grupo II (sem microftalmia). Resultados: O diâmetro ântero-posterior dos olhos microftálmicos variou de 13 à 21 mm. A frequência etiológica da catarata congênita associada aos olhos microftálmicos foi assim distribuída: doenças infecciosas (55,3%); seguidos de idiopáticas (26,3%), colobomas (7,9%), hereditárias (6,6%), persistência do vítreo primário hiperplásico (2,6%) e associada à síndrome de Lenz (1,3%) .A frequência da microftalmia foi de 7,23 %. 68,3% de olhos afácicos microftálmicos atingiram visão melhor e ou igual à 20/200. Conclusão: A frequência da microftalmia associada à catarata congênita foi de 7,23%. A maior frequência etiológica ocorreu nas doenças infecciosas (55,3%), Embora os olhos microftálmicos tenham tendência para piores resultados visuais quando comparados aos não microftálmicos, nesta pesquisa os olhos microftálmicos afácicos que atingiram visão melhor ou igual a 20/200 foram de 68,3%.

Abstract Objective: To determine the frequency of microphthalmia associated with congenital cataract and its etiological frequency. Compare the result of visual acuity in aphakic microphthalmus eyes, with the visual acuity result obtained in non microphthalmus eyes. Methods: Retrospective study of 76 patients with microphthalmia and congenital cataract, selected after analysis of 1050 medical records of patients seen in congenital cataract clinic of UNIFESP. All patients underwent complete ophthalmologic examination and microphthalmia determined by ultrasound biometry. Investigations were made to clarify the etiological cause. The postoperative visual outcome of Group I (with microphthalmia) was faced with the visual results obtained in Group II (control group without microphthalmia). Results: The anteroposterior diameter of microphthalmus eyes ranged from 13 to 21 mm. The etiological frequency of microphthalmia and congenital cataract was distributed as follows: infectious diseases (55.3%), idiopathic (26.3%), colobomas (7.9%), hereditary (6.6%), persistent hyperplastic vitreous (2.6%) and linked to the Lenz's syndrome (1.3%). The visual acuity in aphakic eyes that reached better view and or equal to 20/200 was 68.3%. Conclusion: The frequency of microphthalmia associated with congenital cataract was 7.23%. The etiological occurred more frequently in infectious disease (55.3%). The aphakics eyes with microphthalmia tend to have worse visual acuity results than the eyes without microphthalmia. If we consider the visual results same and above 20/200 as successful in this search, aphakic eyes with microphthalmia that hit these indices are 68.3%.

Manejo clinicoquirúrgico de la anoftalmia y de la microftalmia congénitas / Clinical and surgical management of congenital anophthalmia and microphthalmia

La anoftalmia y la microftalmia congénitas son defectos oculares poco frecuentes, generalmente identificados en el momento del nacimiento, como resultado de alteraciones en la organogénesis del ojo a consecuencia de la acción de factores genéticos y ambientales durante el desarrollo embrionario. Estas anomalías provocan grave discapacidad visual a las personas que la padecen, por lo que generan gran repercusión en el ámbito psicosocial. El diagnóstico y el tratamiento precoz permitirán la estimulación visual a edad temprana, la corrección parcial o total de la anomalía y una mejor calidad de vida de estos pacientes, aun cuando no sea posible evitar la ceguera. La conducta ante estas afecciones es compleja y controversial; constituyen un reto para el cirujano oculoplástico y para el protesista. Por esta razón se decide realizar una revisión bibliográfica para profundizar en el adecuado manejo clinicoquirúrgico de estas anomalías(AU)

Congenital anophthalmia and microphthalmia are infrequent ocular defects at the time of birth as a result of alterations in the organ genesis of the eye caused by the action of genetic and/or environmental factors during the embryonic development. These anomalies bring about serious visual impairment to people who suffer it and have great impact on the psychosocial context. Early diagnosis and treatment allows visual stimulation at younger ages, partial or total correction of the anomaly and a better quality of life for these patients, even when it is not possible to avoid blindness. The behavior before these affections is complex and controversial; it represents a challenge for the oculoplasty surgeon and the prosthesis specialist. The objective of this literature review was to delve into the adequate clinical and surgical management of these anomalies(AU)

Manejo clinicoquirúrgico de la anoftalmia y de la microftalmia congénitas / Clinical and surgical management of congenital anophthalmia and microphthalmia

La anoftalmia y la microftalmia congénitas son defectos oculares poco frecuentes, generalmente identificados en el momento del nacimiento, como resultado de alteraciones en la organogénesis del ojo a consecuencia de la acción de factores genéticos y ambientales durante el desarrollo embrionario. Estas anomalías provocan grave discapacidad visual a las personas que la padecen, por lo que generan gran repercusión en el ámbito psicosocial. El diagnóstico y el tratamiento precoz permitirán la estimulación visual a edad temprana, la corrección parcial o total de la anomalía y una mejor calidad de vida de estos pacientes, aun cuando no sea posible evitar la ceguera. La conducta ante estas afecciones es compleja y controversial; constituyen un reto para el cirujano oculoplástico y para el protesista. Por esta razón se decide realizar una revisión bibliográfica para profundizar en el adecuado manejo clinicoquirúrgico de estas anomalías(AU)

Congenital anophthalmia and microphthalmia are infrequent ocular defects at the time of birth as a result of alterations in the organ genesis of the eye caused by the action of genetic and/or environmental factors during the embryonic development. These anomalies bring about serious visual impairment to people who suffer it and have great impact on the psychosocial context. Early diagnosis and treatment allows visual stimulation at younger ages, partial or total correction of the anomaly and a better quality of life for these patients, even when it is not possible to avoid blindness. The behavior before these affections is complex and controversial; it represents a challenge for the oculoplasty surgeon and the prosthesis specialist. The objective of this literature review was to delve into the adequate clinical and surgical management of these anomalies(AU)

Anoftalmia clínica associada a coloboma e malformações sistêmicas: etiologia e relação oftalmologista-paciente / Clinical anophthalmia and coloboma associated with systemic malformations: etiology and ophthalmologist-patient relationship

RESUMO O presente relato refere-se a uma paciente de 2 anos e 9 meses de idade, portadora de anoftalmia clínica à direita associada a coloboma posterior à esquerda e malformações sistêmicas. A mãe foi vacinada contra rubéola três meses antes da concepção e, ao nascimento, os exames laboratoriais mostraram título de anticorpos IgG de 267 UI/mL para rubéola e 3,5 UI/mL para citomegalovírus, sendo o IgM negativo para ambos. As anormalidades encontradas possuem características de síndrome da rubéola congênita (SRC) e infecção congênita por citomegalovírus. Também podem constituir alteração genética, decorrer de outras etiologias ou apresentarse sem explicação. A avaliação psicológica da paciente foi normal e a mesma encaminhada para reabilitação visual. A mãe manifestou sintomas depressivos e indicado tratamento especializado. Outros estudos serão necessários para esclarecer a etiologia das malformações oculares congênitas e os cuidados holísticos a serem valorizados durante a relação oftalmologista-paciente.

ABSTRACT This report refers to a two years and nine months patient, carrier of clinical anophthalmia in her right eye associated with posterior coloboma in her left eye and systemic malformations. The mother was vaccinated against rubella three months before conception and, at birth, the laboratory tests showed 267 IU/mL for rubella IgG antibodies level and 3,5 IU/mL for cytomegalovirus, being IgM antibodies negative for both. The abnormalities found have characteristics of congenital rubella syndrome (CRS) and congenital cytomegalovirus infection. It can also constitute genetic alteration, derive from other etiologies or present themselves without explanation. The patient’s psychological evaluation was within normal limits, being referred for vision rehabilitation. The mother manifested depressive symptoms, being shown to her specialized treatment. Further studies are needed to clarify the etiology of congenital eye malformations and the holistic cares to be valued during the relationship ophthalmologist-patient.

Síndrome cerebro-óculo-nasal con diagnóstico prenatal / Cerebro-óculo-nasal syndrome with prenatal diagnosis

El síndrome cerebro-óculo-nasal se caracteriza por anomalías del sistema nervioso central, oculares y nasales. La prevalencia de este síndrome es muy baja, y aún no se ha identificado la etiología de esta condición. Se presenta el caso de un paciente con sospecha cínica de este síndrome con diagnóstico prenatal por ecografía 2D y 3D. Se realiza una revisión de la literatura de los casos previamente reportados.

The cerebro-óculo-nasal syndrome is characterized by central nervous system abnormalities, ocular and nasal. The prevalence of this syndrome is very low, and has not yet identified the etiology of this condition. We report the case of a patient with suspected PJS cynical prenatal diagnosis by 2D and 3D ultrasound. A review of the literature of previously reported cases.

Identificación y expresión diferencial del factor de transcripción asociado a microftalmia en corazón y cardiomiocitos aislados de cobayo: su posible papel en la hipertrofia y la viabilidad / Identification and differential expression of the microphthalmia-associated transcription factor in heart and isolated cardiomyocytes from Guinea pigs: Possible role in hypertrophy and viability

Introducción. El factor de transcripción asociado a la microftalmia ( Microphtalmia-Associated Transcription Factor , MITF) regula la expresión de genes específicos, pero no se conoce su expresión y su función a nivel cardiaco. Objetivos. Identificar la expresión del MITF en corazón y en cardiomiocitos aislados de cobayo, describir los cambios morfológicos asociados con su disminución y evaluar los niveles relativos de su expresión en cardiomiocitos aislados en condiciones de preacondicionamiento isquémico. Materiales y métodos. El análisis de la expresión relativa de la isoforma específica de tejido cardiaco ( heart-type MITF, MITF-H), se determinó mediante reacción en cadena de la polimerasa (PCR) en tiempo real semicuantitativa, secuenciación y Western blot . La disminución del ARNm del MITF se indujo con un ARN pequeño de interferencia ( short hairpin RNA interference , shRNAi) específico. El tamaño, el diámetro y el número de fibras musculares se evaluaron por observación directa con microscopía de luz. Resultados. Se amplificó un fragmento de 281 pb de ADNc; el análisis de la secuencia confirmó la identidad del exón 1 y la isoforma H del MITF. La interferencia del ARNm del MITF se asoció con un mayor índice cardiaco (peso corazón/peso corporal: 5,46 x 10 -3 Vs. 4,6 x 10 -3 ) y un incremento del diámetro de las fibras cardiacas (50,2±16 µm Vs. 38,7±14,7 µm; p<0,05, n=150). En los cardiomiocitos aislados en condiciones de preacondicionamiento isquémico, se observó una expresión relativa del MITF-H mayor que en los miocitos en normoxia y expuestos a lesión por isquemia simulada (80 y 100 veces más, n=5, p<0,05, n=3). Conclusión. Los resultados sugieren que el MITF-H podría estar involucrado en la hipertrofia, la respuesta al estrés por isquemia y la supervivencia de cardiomiocitos de cobayo.

Introduction: The microphthalmia -associated transcription factor ( MITF ) regulates the expression of specific genes and its cardiac expression and function is not known. Objectives: To identify the expression of MITF in hearts and isolated cardiomyocytes from Guinea pigs, to describe morphological changes associated with mRNA interference of MITF and to evaluate their relative changes in expression in isolated cardiomyocytes under ischemic preconditioning. Materials and methods: The cardiac specific isoform, MITF-H, and relative expression level analysis, was determined by semi-quantitative real time PCR, sequencing and Western blotting. Reduction of mRNA-MITF-H was induced by transduction of specific-MITF-shRNAi interference. The cardiac morphological changes, diameter and number of cardiac fibers were evaluated by direct observation and light microscopy. Results: A cDNA fragment of 281 bp was amplified from heart and isolated ventricular cardiac myocytes. Sequence analysis confirmed the identity of the isoform MITF-H, exon 1. The MITF silencing was associated with an increase in cardiac index (heart weight/body weight vs . 5.46 x 10 -3 vs 4.6 x 10 -3 ) and higher diameter of cardiac fibers (50.2±16 µ m vs 38,7±14,7 µ m p<0.05, n=150). In isolated cardiac myocytes under ischemic preconditioning we observed a higher relative expression compared with that measured in myocytes exposed to normoxia and simulated ischemia (eighty and one hundred times, p <0.05, n = 5). Conclusion. The results suggest that MITF-H isoform may be involved in Guinea pig cardiac hypertrophy, response to stress by ischemia and cardiomyocytes survival.

Congenital cataract surgery with intraocular lens implantation in microphthalmic eyes: visual outcomes and complications / Cirurgia de catarata congênita com implante de lente intraocular em olhos microftálmicos: resultados visuais e complicações

PURPOSE: To report the visual outcomes and complications of congenital cataract surgery with primary intraocular lens implantation in microphthalmic eyes of children younger than 4 years of age. METHODS:This retrospective interventional case series included 14 microphthalmic eyes from 10 children who underwent congenital cataract surgery with primary intraocular lens implantation younger than 4 years of age. Seven patients had bilateral cataracts (11 eyes met the study's inclusion criteria) and 3 patients had unilateral cataract. Patients' medical charts were reviewed to obtain information regarding the preoperative and postoperative ophthalmological examination. Main outcome measures were intraocular pressure (IOP), best-corrected visual acuity, and intraoperative and postoperative complications. RESULTS: Mean age at the time of surgery was 21.7 ± 2.9 months. Mean ocular axial length was 19.2 ± 0.9 mm. Mean preoperative IOP was 9.7 ± 1.7 mmHg and 10.3 ± 3.1 mmHg on final follow-up (P=0.18). There were no intraoperative complications. Two (15.4%) eyes developed secondary visual axis opacification, of which only one needed to be reoperated due to significantly decreased vision (0.5 logMAR). Preoperative and postoperative best-corrected visual acuity was 2.09 ± 0.97 logMAR and 0.38 ± 0.08 logMAR in bilateral cases and 1.83 ± 1.04 logMAR and 0.42 ± 0.13 logMAR in unilateral cases, respectively. CONCLUSION: Primary intraocular lens implantation in congenital cataract surgery in microphthalmic eyes resulted in a significant best-corrected visual acuity improvement with no intraoperative complications and minimal postoperative complications.

OBJETIVOS: Relatar os resultados visuais e as complicações da cirurgia de catarata congênita com implante primário de lente intraocular em olhos microftálmicos de crianças menores de 4 anos. MÉTODOS: Esta série de casos retrospectiva incluiu 14 olhos microftálmicos de 10 crianças menores de 4 anos que foram submetidas à cirurgia de catarata congênita com implante primário de lente intraocular. Sete pacientes tinham catarata bilateral (11 foram incluídos no estudo) e 3 tinham catarata unilateral. Os prontuários dos pacientes foram revisados para se obter informação sobre o exame oftalmológico pré- e pós-operatório. As principais variáveis analisadas foram pressão intraocular, acuidade visual com melhor correção e complicações intra- e pós-operatórias. RESULTADOS: A média da idade dos pacientes na época da cirurgia foi de 21,7 ± 2,9 meses. O diâmetro antero-posterior médio foi de 19,2 ± 0,9 mm. A pressão intraocular média pré-operatória foi 9,7 ± 1,7 mmHg e 10,3 ± 3,1 mmHg no último exame de acompanhamento pós-operatório (P=0,18). Não houve complicações intraoperatórias. Dois (15,4%) olhos desenvolveram opacificação secundária do eixo visual, dos quais um foi reoperado devido à baixa visual significativa (0,5 logMAR). AV pré- e pós-operatórias foram 2,09 ± 0,97 logMAR e 0,38 ± 0,08 logMAR em casos de catarata congênita bilateral e 1,83 ± 1,04 logMAR e 0,42 ± 0,13 logMAR em casos unilaterais, respectivamente. CONCLUSÃO: O implante primário de lente intraocular em cirurgia de catarata congênita em olhos microftálmicos resultou em uma melhora significativa da acuidade visual com nenhuma complicação intraoperatória e com pouca complicação no pós-operatório.

Comportamiento de la mortalidad fetal e infantil por malformaciones congénitas. Isla de la Juventud. 2006-2011 / Behaviour the fetal and infant mortality for congenital malformations. Isle of youth. 2006-2011

Se realizó un estudio descriptivo longitudinal para determinar el comportamiento de la mortalidad fetal e infantil por malformaciones congénitas en la Isla de la Juventud, en el período enero 2006 a diciembre 2011. Para lo cual se estudiaron 96 gestantes con el diagnóstico prenatal y postnatal de malformaciones congénitas fetales que fallecieron antes del primer año de vida y constituyeron la totalidad de los casos en el periodo investigado. El análisis de la mortalidad por esta causa, mostró un predominio en el grupo de edad de 25 a 29 años. Los factores de riesgo más encontrados fueron el tabaquismo y el alcoholismo. Las malformaciones congénitas que más afectaron la mortalidad fetal fueron las del sistema nervioso central y las cardiovasculares, mientras que la mortalidad infantil se comportó similar y en primer lugar las cardiopatías congénitas(AU)

A longitudinal descriptive study was done in order to determine the behaviour of the fetal and infant mortality due to congenital malformations in the Isle of youth, in the period from January 2006 to December 2011. With this aim in view, there were studied 96 pregnant women with the prenatal and postnatal diagnosis of fetal congenital malformations who died before the first year of life and they constituted the total of cases in the researched period. The analysis of mortality because of this cause showed predominance in the group from 25 to 29 years old. The risk factors more frequently found were the smoking habits and alcoholism. The congenital malformations that affected the fetal mortality most were the ones of the central nervous system and the cardiovascular ones, meanwhile the infant mortality had a similar behaviour, and the congenital cardiopaties were in first place(AU)

Alterações do segmento posterior na microftalmia: relato de casos / Posterior segment changes in microphthalmic eyes: case report

Microftalmia é a alteração de desenvolvimento caracterizada pela redução do tamanho do bulbo ocular. Pode estar associada a manifestações estruturais do segmento anterior e posterior. As alterações mais comuns do segmento anterior são as opacidades corneanas, o estreitamento e fechamento do ângulo da câmara anterior e a catarata, e as mais frequentes no segmento posterior são a efusão uveal, as dobras de retina, a alteração da vascularização capilar macular, a ausência de depressão foveal e a retinosquise periférica. Este estudo descreve o caso de três pacientes com microftalmo e manifestações no segmento posterior documentadas com tomografia de coerência óptica. O primeiro caso apresentou a síndrome de efusão uveal, com descolamento de coróide e de retina, tratada com cirurgia de esclerectomia parcial nos quatro quadrantes. No segundo caso, havia a dobra retiniana neurossensorial na fóvea e feixe papilomacular em ambos os olhos sem o envolvimento de epitélio pigmentado retiniano e coriocapilar. No terceiro paciente, o microftalmo estava acompanhado de ausência da depressão foveal, cujo principal diagnóstico diferencial é a hipoplasia foveal.

Microphthalmos is a developmental ocular disorder defined as a small eyeball. The condition can be associated with abnormalities of anterior and posterior segments. The most common anterior characteristics include corneal opacities, angle-closure and a shallow anterior chamber and cataract. The main findings of posterior segment are uveal effusion, retinal folds, abnormalities of macular capillar vascularization, absence of foveal depression and peripheral retinoschisis. Three patients with microphthalmos were assisted and their OCT features of posterior segment were analyzed. The first case had uveal effusion syndrome, choroidal and retinal detachment treated with parcial sclerectomy at the four quadrants. The other case presented with neurosensory retinal fold at fovea and papillomacular area in both eyes without involvement of retinal pigment epithelium layer and choriocapillaris. The third patient showed absence of foveal depression. The main diferencial diagnosis for this condition is foveal hypoplasia.