Findings of ocular examinations in healthy full-term newborns / Achados de exame ocular realizado em recém-nascidos a termo saudáveis

ABSTRACT Purpose: To assess the anterior and posterior segments of full-term neonates over a 1.5-year period. Methods: The findings of full-term neonates who underwent ophthalmological examinations between June 2019 and December 2020 were analyzed, and the results were retrospectively recorded. Results: The study comprised 2972 neonates with a mean birth week of 38.7 ± 1.2 weeks and a mean birth weight of 3235 ± 464 g. The neonates were examined on an average of 49.3 ± 18.9 postnatal days. Of the examined neonates, 185 (6.2%) showed abnormal ophthalmological findings, the most prevalent of which were retinal hemorrhage in 2.3% (n=68) and white changes in the peripheral retina in 1.9% (n=55) of the neonates. Cases of optic disc pathologies (n=20), choroidal nevus (n=10), iris-choroidal coloboma (n=5), subconjunctival hemorrhage (n=6), non-specific retinal pigmentary change (n=4), congenital cataract (n=3), posterior synechia (n=3), iris nevus (n=3), corneal opacity (n=1), choroidal coloboma (n=1), iris coloboma (n=1), buphthalmos (n=1), anophthalmos (n=1), microphthalmia (n=1), lid hemangioma (n=1), and vitreous hemorrhage (n=1) collectively accounted for approximately 2% of all neonates. Pathologies that could potentially impair vision, which were detected by ophthalmological examination, accounted for 1.2% of all neonates (n=37). Conclusion: The most prevalent finding of the ophthalmological examinations of neonates in the present study was retinal hemorrhage. Ophthalmological examinations of neonates can help in identifying diseases that may affect their vision and are curable or may lead to amblyopia in the long term.

RESUMO Objetivo: Avaliar os segmentos anterior e posterior em recém-nascidos a termo durante um período de 1,5 anos. Métodos: Foram analisados recém-nascidos a termo que tiveram os olhos examinados entre junho de 2019 e dezembro de 2020, e os resultados foram registrados retrospectivamente. Resultados: O estudo foi composto por 2.972 recém-nascidos com média de uma semana de nascimento de 38,7 ± 1,2 semanas e um peso médio ao nascer de 3235 ± 464 g. Os recém-nascidos foram examinados em média pós-natal de 49,3 ± 18,9 dias. Dos recém-nascidos, 185 (6,2%) apresentaram resultados oculares anormais. Os achados oculares anormais mais prevalentes foram hemorragia da retina em 2,3% (n=68) e alterações brancas na retina periférica em 1,9% (n=55) dos recém-nascidos. Casos de patologias de disco óptico (n=20), nevo de coroide (n=10), coloboma iris-coroide (n=5), hemorragia subconjuntival (n=6), alteração pigmentar da retina não específica (n=4), catarata congênita (n=3), Sinequia posterior (n=3), nevo da íris (n=3), opacidade da córnea (n=1), coloboma de coroide (n=1), coloboma de íris (n=1), buftalmos (n=1), anoftalmia (n=1), microftalmia (n=1), hemangioma de pálpebra (n=1) e hemorragia vítrea (n=1) contabilizaram coletivamente cerca de 2% dos recém-nascidos. As patologias que potencialmente prejudicam a visão, detectadas por exame ocular, representaram 1,2% dos recém-nascidos (n=37). Conclusão: O achado mais prevalente de exames oculares de recém-nascidos neste estudo foi hemorragia da retina. Exames oftalmológicos em recém-nascidos podem ser úteis na identificação de doenças que podem impactar a visão deles, podendo ser curáveis ou levar à ambliopia no longo prazo.

Bilateral congenital dacryocystocele complicated with acute dacryocystitis / Dacriocistocele congênita bilateral complicada com dacriocistite aguda

ABSTRACT Congenital dacryocystocele is an uncommon entity that results from a malformation of the nasolacrimal system, occurring predominantly in neonatal females. It may resolve spontaneously but can be associated with potentially serious complications as acute dacryocystitis, requiring referral to an ophthalmologist. Bilateral cases of congenital dacryocystocele are rarely reported. We present a case of acute dacryocystitis occurring in a female newborn with bilateral congenital dacryocystocele who presented with bilateral epiphora and a mass in the right medial canthus since birth. Computed tomography revealed a bilateral soft tissue lesion in the medial canthus of the ocular globe. Dacryocystocele progressed to secondary infection on the right and patient developed acute dacryocistitis. She was admitted to the hospital for intravenous antibiotic therapy followed by the nasolacrimal system probing. This case report is also important to address the management of congenital dacryocystocele, and the decision to carry out the most suitable treatment, considering the diverse therapeutic options.

RESUMO A dacriocistocele congênita é uma entidade incomum, que resulta de uma malformação do sistema nasolacrimal, ocorrendo predominantemente em recém-nascidos do sexo feminino. Pode se resolver espontaneamente, mas também pode estar associada a complicações potencialmente graves, como dacriocistite aguda, necessitando de encaminhamento a um oftalmologista. Raramente são relatados casos bilaterais de dacriocistocele congênita. Relatamos um caso de dacriocistite aguda acometendo um recém-nascido do sexo feminino. Ele apresentava dacriocistocele congênita bilateral, que apresentava epífora bilateral e uma massa no canto medial direito desde o nascimento. A tomografia computadorizada revelou lesão bilateral de partes moles no canto medial do globo. A dacriocistocele apresentou infecção secundária à direita, e a paciente desenvolveu dacriocistite aguda. Ela foi internada no hospital para antibioticoterapia intravenosa seguida de sondagem do sistema nasolacrimal. Este relato de caso também é importante para abordar o manejo da dacriocistocele congênita e a decisão de realizar o tratamento mais adequado, considerando as diversas opções terapêuticas.

Mejoramiento estético en paciente con tisis bulbi

Introducción: El ojo es un órgano esencial para la relación con el entorno y para el desarrollo del ser humano, es fundamental poseer una adecuada salud visual. Objetivo: Describir la confección de una prótesis ocular para el mejoramiento estético en un paciente con tisis bulbi en ojo derecho. Caso clínico: Paciente masculino, de raza blanca, de 59 años de edad que llega a la consulta de Prótesis del Policlínico Universitario Julio Antonio Mella de la provincia Camagüey remitido de Servicios de Oftalmología con diagnóstico de tisis bulbi del ojo derecho. Al interrogatorio plantea que cuando niño, jugando con su hermano recibió un golpe en el ojo, por el cual fue tratado en el servicio de Oftalmología del Hospital Pediátrico Eduardo Agramonte Piña de la ciudad de Camagüey. Tuvo una pérdida visual progresiva que finalizó en ceguera y cambio de coloración del ojo. Refiere que nunca ha tenido dolor, pero le preocupa su estética. Conclusiones: El tratamiento protésico de la tisis del globo ocular, es una situación desafiante para el equipo rehabilitador, dada las características de este defecto. Con la utilización de este tipo de prótesis oculares en la rehabilitación del paciente, se logró mejorar su estética, lo que condujo a la recuperación física, psíquica y social.

Introduction: The eye is an essential organ for the relationship with the environment, and for the development of the human being it is essential to have adequate visual health. Objective: To describe the preparation of an ocular prosthesis for aesthetic improvement in a patient with phthisis bulbi in the right eye. Clinical case: A 59-year-old white male patient who arrived at the prosthesis clinic of the Julio Antonio Mella University Polyclinic in the province of Camagüey, referred from Ophthalmology Services with a diagnosis of phthisis bulbi of the right eye. Upon interrogation, he states that when he was a child, playing with his brother, he received a blow to the eye, for which he was treated at the ophthalmology service of the Eduardo Agramonte Piña Pediatric Hospital in the city of Camagüey. He had progressive visual loss that ended in blindness and eye color change. He says that he has never had pain, but he is concerned about his aesthetics. Conclusions: The prosthetic treatment of ocular globe phthisis is a challenging situation for the rehabilitation team, given the characteristics of this ocular defect. With the use of this type of ocular prosthesis in the patient's rehabilitation, it was possible to improve their aesthetics, which led to physical, mental and social recovery.

Comportamiento de los pacientes con distrofia corneal endotelial de Fuchs en la provincia Camagüey

Introducción: La distrofia corneal endotelial de Fuchs se trata de un trastorno degenerativo específico, bilateral y progresivo del endotelio corneal, es la más frecuente pero no siempre es diagnosticada en sus etapas iniciales en las consultas de oftalmología general. Objetivo: Describir el comportamiento clínico de pacientes con distrofia corneal endotelial de Fuchs en la provincia Camagüey. Métodos: Se realizó un estudio observacional, descriptivo, transversal en el Centro Oftalmológico del Hospital Universitario Manuel Ascunce Domenech en la provincia Camagüey desde noviembre 2019 hasta junio 2021. El universo de estudio estuvo constituido por todos los pacientes que asistieron durante el periodo de estudio y la muestra la conformaron 19 pacientes (38 ojos) quienes cumplieron con los criterios de inclusión y exclusión. Las variables estudiadas fueron edad, sexo, color de la piel, agudeza visual con corrección, asociación con glaucoma, paquimetría, biomicroscopía del segmento anterior, microscopía endotelial, microscopía confocal, estadio de la enfermedad y tipo de tratamiento aplicado. Resultados: Predominaron los pacientes entre 40 y 59 años de edad, el sexo femenino y color blanco de la piel. Sobresalió la visión útil, los valores de paquimetría altos y asociados al glaucoma. Se constató la presencia de guttas, edema corneal, bajo conteo celular con polimorfismo y polimegatismo. El estadio 2 estuvo en 47,4 % y el tratamiento médico se aplicó en el 97,4 %. Conclusiones: La distrofia aparece con más frecuencia después de los 40 años de edad, en sexo femenino y color blanco de piel. Predominó la visión útil, valores altos de paquimetrías y asociación con glaucoma. En la biomicroscopía del segmento anterior predominaron las guttas y el edema estromal y la microscopía endotelial y confocal se caracterizaron en su mayoría por el bajo conteo celular, las guttas, polimorfismo y polimegatismo. Prevaleció el estadio 2 y el tratamiento médico.

Introduction: Fuchs endothelial corneal dystrophy is a specific, bilateral and progressive degenerative disorder of the corneal endothelium, it is the most frequent but it is not always diagnosed in its initial stages in general ophthalmology consultations. Objective: To describe the clinical behavior of patients with Fuchs endothelial corneal dystrophy in Camagüey province. Methods: A cross-sectional descriptive observational study was carried out at the Ophthalmological Center of the Manuel Ascunce Domenech University Hospital in Camagüey in the period from November 2019 to June 2021. The study universe consisted of all the patients who attended during the study period and the sample was made up of 19 patients (38 eyes) who met the inclusion and exclusion criteria. The variables studied were age, sex, skin color, corrected visual acuity, association with glaucoma, pachymetry, anterior segment biomicroscopy, endothelial microscopy, confocal microscopy, disease stage, and type of treatment applied. Results: Patients between 40 and 59 years of age, female sex, and white skin color predominated. Useful vision stood out, high pachymetry values and associated with glaucoma, the presence of guttas, corneal edema, low cell count with polymorphism, and polymegatism was confirmed. Stage 2 was 47.4% and medical treatment was applied in 97.4%. Conclusions: Dystrophy appears more frequently after 40 years of age, in females and white skin persons. Useful vision, high pachymetry values, and association with glaucoma prevailed. In the biomicroscopy of the anterior segment, guttas and stromal edema predominated, and endothelial and confocal microscopy were mostly characterized by low cell count, guttas, polymorphism, and polymegatism. Stage 2 and medical treatment prevailed.

Caracterización de los pacientes con defectos oculares atendidos en el Policlínico Universitario Julio Antonio Mella

Introducción: La prótesis bucomaxilofacial constituye la rehabilitación morfofuncional por medios artificiales de las estructuras intrabucales y peribucales en los defectos oculares, orbitales, nasales, auriculares, maxilares, mandibulares, craneales y complejos; con la conservación de modo armónico de las estructuras remanentes ya sean duros o blandos. Objetivo: Caracterizar los pacientes rehabilitados por defectos oculares en el Policlínico Universitario Julio Antonio Mella. Métodos: Se realizó un estudio observacional, descriptivo y transversal desde enero de 2015 a febrero de 2022 en pacientes rehabilitados por defectos oculares en el departamento de Prótesis Estomatológica del Policlínico Universitario Julio Antonio Mella de la ciudad de Camagüey. Se estudiaron 53 pacientes que acudieron en el período de la investigación remitidos del Hospital Universitario Manuel Ascunce Domenech y del Hospital Pediátrico Provincial Docente Eduardo Agramante Piña de la provincia Camagüey. Resultados: Con relación a los pacientes con rehabilitados según edad, sexo y factores etiológicos prevaleció el grupo 35 a 59 años, así como el sexo masculino y el traumatismo ocular. Se constató que la experiencia protésica satisfactoria primó en los periodos evaluados y con respecto a los pacientes rehabilitados según los factores relacionados con la estética, se comprobó que los valores más favorables fueron para el color de la esclera y la apertura palpebral. Conclusiones: Predominó el sexo masculino junto con el grupo de edad de 35 59 años. La causa más frecuente de pérdida ocular fue la traumática. Hubo un alto índice de experiencia satisfactoria con el uso de las prótesis y los factores que determinaron la estética fueron favorables.

Introduction: The bucomaxilofacial prosthesis constitutes the morpho-functional rehabilitation for artificial means of the intraoral and peribucales structures in the ocular defects, orbital, nasal, aural, maxillary, mandibular, cranial and complex; with the harmonic conservation of mode of the remanent structures either be hard or soft. Objetive: To characterize the patients rehabilitated for ocular defects at the Julio Antonio Mella University Polyclinic. Methods: An observational, descriptive and transversal study was carried out from January, 2015 to February, 2022 in patients rehabilitated by ocular defects in the department Dentistry Prosthesis of the Julio Antonio Mella University Polyclinic of the city of Camagüey. 53 patients constituted the universe that attended in the period of the investigation remitted of the Manuel Ascunce Domenech University Hospital and from the Eduardo Agramontes Piña Provincial Pediatric Hospital in the province Camagüey. Results: With respect to the rehabilitated patients according to age, sex and etiologic factors prevailed the group 35 to 59 years, as well as the masculine sex and the ocular traumatism. It was verified that the prosthetic satisfactory experience had priority in the evaluated periods and regarding the patients rehabilitated according to the factors related with esthetics, it was verified that the most favorable values were for the color of the esclera and the palpebral opening. Conclusions: The masculine patients predominated along with the age rank of 35-59 years. The most frequent cause of ocular loose was the traumatic one. There was a tall index of satisfactory experience with the use of the prosthesis and the factors that determined the esthetics were favorable.

Perfil clínico de pacientes dermatológicos encaminhados para avaliação oftalmológica / Clinical profile of dermatological patients referred to ophthalmological evaluation

RESUMO Objetivo: Analisar o perfil clínico de pacientes em acompanhamento dermatológico encaminhados para avaliação oftalmológica. Métodos: A amostra foi composta de pacientes dermatológicos encaminhados para avaliação oftalmológica, nos anos de 2016 e de 2017. Estudou-se a concomitância de doenças dermatológicas com as afecções oftalmológicas por meio da coleta simultânea do histórico dermatológico (prontuários registrados com dados gerais e diagnóstico) e de dados da consulta oftalmológica após o encaminhamento. Resultados: Foram avaliados pela oftalmologia 224 pacientes, sendo 65% do sexo feminino, 80% caucasianos, com idade variando entre 1 mês e 85 anos. As situações cujo encaminhamento foi mais prevalente foram psoríase, lúpus, vitiligo e rosácea (18,3%, 13,8%, 12,9% e 10,7%, respectivamente). Fototerapia crônica e uso de hidroxicloroquina representaram 35,7% e 22,3% dos pacientes. Casos de neurofibromatose, micose fungoide, líquen plano, neoplasias de pele, atopias, pênfigo e esclerodermia também estiveram presentes. Cegueira legal foi detectada em 6%, e deficiências visuais ligadas a afecções dermatológicas foram verificadas em 16,5% dos casos. As alterações oculares mais prevalentes foram catarata (18,9%), blefarite (15,9%), pterígio (5,3%) e conjuntivite (5,3%). Conclusão: Encontrou-se elevada frequência de alterações oftalmológicas em uma população de pacientes com doenças dermatológicas. Assim, o estudo e a análise de manifestações oculares em pacientes dermatológicos podem auxiliar na detecção precoce e na prevenção de complicações.

ABSTRACT Objective: To analyze the clinical profile of patients under dermatological care and referred to ophthalmological evaluation. Methods: The sample comprised dermatology patients referred to ophthalmological evaluation in 2016 and 2017. The simultaneous occurrence of skin and ophthalmic diseases was studied, by collecting dermatological history (medical records containing general data and diagnosis) and ophthalmic consultation data following referral. Results: A total of 224 patients were assessed, 65% were female, 80% were white, and age varied between one month and 85 years. The conditions more often referred were psoriasis, lupus, vitiligo and rosacea (18.3%, 13.8%, 12.9% and 10.7%, respectively). Chronic phototherapy and use of hydroxychloroquine were observed in 35.7% and 22.3% of patients, respectively. Cases of neurofibromatosis, mycosis fungoides, lichen planus, skin cancer, atopic dermatitis, pemphigus and scleroderma were also reported. Legal blindness was detected in 6% and visual impairment related to skin conditions in 16.5% of patients. The most prevalent ocular changes were cataracts (18.9%), blepharitis (15.9%), pterygium (5.3%) and conjunctivitis (5.3%). Conclusion: A high frequency of ophthalmic changes in a population of dermatological patients was found. In this context, studying and analyzing ocular manifestations in dermatological patients could be useful in early detection and prevention of complications.

Prenatal diagnosis of Joubert syndrome caused by de novo mutations of CPLANE1 gene / 中华围产医学杂志

We report a case of fetal cerebellar vermis dysplasia diagnosed prenatally by ultrasonography. Ultrasonography of the 27-year-old woman at 20 +6 gestational weeks revealed partial separation of the cerebellar vermis (Dandy-Walker variants), unclosable upper and lower lips, and polydactyly, based on which a preliminary diagnosis of multiple fetal malformations was made. Karyotype and chromosomal microarray (CMA) analysis of the amniotic fluid showed no abnormality. After genetic counseling, amniocentesis was performed again for a whole-exome sequencing test. The results suggested that there are compound heterozygous variations of c.3435G>A(P.W1145X) and c.2941C>G(p. p981A) in the exon 19 and exon 17 of the CPLANE1 gene, which were both de novo mutations and inherited from the father and mother, respectively. The fetus was diagnosed as Joubert syndrome. Given the facial and limb deformities and a significant risk of neurological abnormalities of the fetus, the patient and her family decided to terminate the pregnancy.

Sonographic features of Joubert syndrome in first or second trimester: report of two fetuses / 中华围产医学杂志

We report two cases of Joubert syndrome initially tentatively diagnosed by prenatal ultrasound in the first or second trimester which were thereafter confirmed by whole exome sequencing (WES). Case 1 was one of the twins who presented with increased intracranial transparency (IT) and thinner brainstem at 12 +1 gestational weeks. Ultrasound at 18 +2 weeks found multiple intracranial malformations, "molar tooth sign (MTS)" at the midbrain-hindbrain junction level in the cerebral cross section, and bilateral ventriculomegaly. Enlarged and echogenic kidneys and oligohydramnios were also detected. In case 2, ultrasound image at 17 +5 weeks of gestation indicated multiple intra-and extra cranial and extracranial malformations, MTS in the midbrain-hindbrain junction plane, bilateral ventriculomegaly, unclear cavum septum pellucidum. Extracranial anomalies were bilateral multicystic enlarged kidneys, invisible bladder, and oligohydramnios. Both fetuses underwent amniocentesis, which showed normal karyotype and no copy number variation was detected. However, variation of the TMEM67 gene (c.312+5G>A at introns 2 and c.1175C>G at exon12) was detected in both fetuses by WES, supporting the diagnosis of Joubert syndrome. Selective reduction and termination of pregnancy were performed on case 1 and case 2 at 18 +5 and 19 weeks of gestation, respectively.

Importância do diagnóstico diferencial de olho vermelho não traumático na atenção primária: uma revisão da literatura / Importance of differential diagnosis of non-traumatic red eye in primary care: a literature review

O olho vermelho é uma queixa oftalmológica frequente na atenção primária à saúde. Neste contexto, o objetivo desta revisão é descrever as principais patologias relacionadas a esse sinal na prática clínica, a fim de auxiliar os profissionais de saúde no diagnóstico, na condução dos casos, e na tomada de decisões quanto à necessidade de encaminhamento ao especialista. A maioria dos casos são benignos, porém, alguns apresentam risco de complicações e perda visual.

The red eye is a frequent eye complaint in primary health care. In this context, the objective of this review is to describe the main pathologies related to this sign in clinical practice, in order to assist health professionals in the diagnosis, in the management of cases, and in making decisions regarding the need for referral to the specialist. Most cases are benign, however, some are at risk of complications and visual loss.

Síndrome de Axenfeld-Rieger. Presentación de un caso / Axenfeld-Rieger syndrome. Presentation of a case

RESUMEN El síndrome de Axenfeld-Rieger es una enfermedad de origen genético de muy baja prevalencia que se hace acompañar de manifestaciones clínicas variables con afectación ocular y no ocular. Por tales razones se decidió presentar el caso de una paciente de 14 años de edad, antecedente familiar (en este caso su madre) de dicha enfermedad, con historia de retraso mental ligero, hipoacusia y mala visión en ambos ojos que se acompaña de alteraciones oculares: malformaciones a nivel del segmento anterior: deformidad de la pupila, prominencia blanquecina perilímbica que se corresponde con un embriotoxón posterior. Presenta otros signos de afectación no oculares: dismorfismo craneofacial leve, hipertelorismo, hipoplasia maxilar con aplanamiento del tercio medio facial, frente prominente, puente nasal ancho y aplastado así como anomalías dentales. Sufre complicaciones propias de la evolución de la entidad como es el glaucoma secundario, por lo que se trató con triple terapia con hipotensores oculares, en espera de la respuesta al tratamiento para, en el caso de una evolución tórpida, proceder al tratamiento quirúrgico: trabeculectomía.

ABSTRACT Axenfeld-Rieger syndrome is a very low prevalence disease of genetic origin that is accompanied by variable clinical manifestations with ocular and non-ocular involvement. For these reasons, it was decided to present the case of a 14-years-old patient with a family history (in this case her mother) of this disease, with a history of mild mental retardation, hearing loss and poor vision in both eyes that is accompanied by ocular alterations: malformations at the level of the anterior segment: pupil deformity, perilimbic whitish prominence corresponding to a posterior embryotoxon. He presents other non-ocular signs of involvement: mild craniofacial dysmorphism, hypertelorism, maxillary hypoplasia with flattening of the midface, prominent forehead, wide and flattened nasal bridge, as well as dental anomalies. He suffers from complications inherent to the evolution of the entity, such as secondary glaucoma, for which he was treated with triple therapy with ocular hypotensive agents, pending the response to treatment, and in the case of a torpid evolution, proceed to surgical treatment: trabeculectomy.

Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome / Anomalia de Morning Glory associada à extenso hemangioma infantil como apresentação da Síndrome PHACE

ABSTRACT Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.

RESUMO O hemangioma infantil é a causa mais comum de tumor benigno na infância e usualmente é uma condição isolada podendo ocorrer em diferentes regiões do corpo. No entanto, hemangiomas infantil extensos podem ser associados com outras malformações sistêmicas incluindo anomalias no sistema nervoso central, cerebrovasculares, cardíacas e oftalmológicas, uma condição denominada síndrome PHACE. Neste trabalho, descrevemos o caso de um paciente com síndrome PHACE que se apresentou com um extenso hemangioma facial e anomalia de "morning glory".

Double puncta canaliculi may exhibit different clinical presentations / Ponto lacrimal duplo pode ter apresentações clínicas diferentes

ABSTRACT In this paper, we describe two adult patients who presented with double lacrimal puncta: one of them was asymptomatic and incidentally diagnosed, and the other complained of epiphora. In both patients, unilaterality, preference for the lower lid, and location medial to the normal punctum were common features of the accessory punctum. In the asymptomatic patient, irrigation revealed no obstruction in the punctum or the nasolacrimal drainage system. By contrast, the other patient's nasolacrimal drainage system exhibited obstruction. Therefore, dacryocystorhinostomy surgery and silicone tube intubation were successfully performed. Double lacrimal puncta may be associated with epiphora or dry eye. These manifestations can easily be missed in a routine examination. This report was written to emphasize that unilateral epiphora of dry eye symptoms may be related to supernumerary punctum or canalicular systems and can easily be diagnosed with lid eversion.

RESUMO Neste artigo, descrevemos dois pacientes adultos que apresentaram punção lacrimal dupla: um deles assintomático e diagnosticado incidentalmente, e o outro queixava-se de epífora. Nos dois pacientes, unilateralidade, preferência pela pálpebra inferior e posição medial pelo ponto normal foram características comuns do ponto acessório. No paciente assintomático, a irrigação não revelou obstrução no ponto ou no sistema de drenagem nasolacrimal. No entanto, o sistema de drenagem nasolacrimal do outro paciente exibiu obstrução. Portanto, a cirurgia de dacriocistorrinostomia e a intubação com tubo de silicone foram realizadas com sucesso. O ponto lacrimal duplo pode ser associado à epífora ou ao olho seco. Essas manifestações podem ser facilmente esquecidas em um exame de rotina. Queremos enfatizar que a epífora unilateral dos sintomas de olho seco pode estar relacionada ao sistema de ponto ou canalicular supranumerário e pode ser facilmente diagnosticada com eversão de pálpebra.

Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report / Coexistência de fosseta óptica e coloboma de íris, cristalino e coroide: um primeiro relato de caso

ABSTRACT A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.

RESUMO Uma mulher de 42 anos de idade foi internada em nossa clínica com queixa de ofuscamento em ambos os olhos. O exame biomicroscópico revelou coloboma de íris e cristalino no quadrante inferior em ambos os olhos. O exame de fundo do olho direito revelou um fosseta óptica oval e acinzentada na região inferotemporal e dois colobomas coroide no quadrante inferior. No olho esquerdo, dois colobomas de coroide foram detectados inferiormente à da cabeça do nervo óptico. Outro homem de 21 anos apresentou-se em nossa clínica para um exame oftalmológico de rotina. O exame biomicroscópico foi normal, bilateralmente. O exame de fundo do olho esquerdo revelou uma fosseta oval e acinzentada de nervo óptico óptico inferotemporal e um coloboma coroide inferior à cabeça do nervo óptico. Nestes relatos nós descrevemos fossetas ópticas ocorrendo simultaneamente com colobomas de íris, cristalino, e coroide. Com base nestes casos, o defeito no fechamento da fissura embrionária é uma provável etiologia da fosseta óptica.

Avaliação das urgências oftalmológicas em um hospital público de referência em Pernambuco / Evaluation of ophthalmic emergencies in a public reference hospital in Pernambuco

RESUMO Objetivo: Avaliar as urgências oftalmológicas em um hospital público de referência de Pernambuco. Métodos: Estudo transversal e retrospectivo, com 26.358 pacientes atendidos na emergência oftalmológica da Fundação Altino Ventura , no período janeiro a junho de 2013. Os dados foram coletados por meio de protocolos baseados nas fichas de cadastro eletrônicas da emergência oftalmológica. Resultados: Observou-se que 52,5% dos indivíduos eram do gênero masculino e 42,5% encontravam-se na faixa etária de 21 a 40 anos; 90,8% eram provenientes da região Metropolitana do Recife e 55% dos casos foram classificados como de baixa gravidade. Os diagnósticos mais frequentes foram conjuntivite (35,17%) e trauma ocular (19,25%). Conclusão: Houve prevalência de pacientes do gênero masculino, na faixa etária de 21 a 40 anos, proveniente da região Metropolitana do Recife, classificado como baixa gravidade, atendidos no mês de janeiro, na segunda-feira, com o diagnóstico de conjuntivite, seguida por trauma ocular.

ABSTRACT Purpose: To evaluate ophthalmological emergencies in a public reference hospital in Pernambuco. Methods: Cross-sectional retrospective study with 26.358 patients attended in the ophthalmic emergency Altino Ventura Foundation, in the period january to june 2013. Data were collected using protocols based on electronic registration forms of ophthalmological emergency Results: It was observed that 52.5% of patients were male, 42.5% were aged 21-40 years; 90.8% were from the region metropolitan area of Recife; 55% classified as less severe. The main diagnoses were conjunctivitis (35.17%) and ocular trauma (19.25%). Conclusion: The prevalence of male patients, aged 21-40 years, from the metropolitan area of Recife, classified as low complexity, attended in January, on Monday, with the diagnosis of conjunctivitis, followed by ocular trauma.

Clinical manifestations and pathological characteristics of retrolental membranes secondary to persistent hyperplastic primary vitreous / 中华实验眼科杂志

Background Persistent hyperplastic primary vitreous (PHPV) is a congenital eye disease of children,because its clinical manifestations are nonspecific,it is easy to be misdiagnosed as congenital cataract and the prognosis is poor.There has been more researches on PHPV clinical characteristics than its histopathological feature and immunochemistry.Objective This study was to investigate the clinical characteristics of PHPV and the pathological characteristics of retrolental membranes secondary to PHPV.Methods The clinical data of 6 PHPV eyes from 6 patients during May 2005 to December 2014 were retrospectively analyzed.All the PHPV eyes received a combinating procedure of cataract extraction and anterior vitrectomy.The retrolental membranes were collected during surgery for the histopathological examination by hematoxylin & eosin staining and periodic acid-Schiff (PAS)staining.Immunochemistry was used to detect the expression of Vimentin,smooth muscle actin (SMA),S-100,glial fibrillary acidic protein (GFAP),neuron specific enolase (NSE),epithelial membrane antigen (EMA),CD34 and proliferating cell nuclear antigen (PCNA) in the retrolental membranes.Results Monocular PHPV was found in 6 cases since born,with the main clinical manifestation of similar to congenital cataract.The ocular axial was shorter in 5 PHPV eyes than that of the contralateral eye by A-sonography,and 1 eye accompanied by eye nystagmus,strabismus and small cornea.The retrolental membranes were seen during the surgery in all cases,and the white band through the vitreous in 2 eyes.Pathological examination showed that the retrolental membrane was mainly composed of loose or myxoid connective tissue fibers,the capillaries and small veins.PAS positive tissue,residual transparent artery and differentiated adipocytes were exhibited in some specimens.Immunohistochemistry indicated that spindle-shape cells in the retrolental membranes presented the characteristics of mesenchymal cells,and some cells appeared the myofibroblast characteristics with the low proliferation activity.The development of the lens and the ciliary body was abnormal because of the stretching of retrolental membranes into the lens capsule in 1 PHPV eye.The follow-up was performed for 6-9 years in 4 eyes,with the best corrected visual acuity (BCVA) for 0.06,light perception,0.05 and 0.07 respectively.The intraocular pressure was normal in all the eyes.Conclusions PHPV is usually misdiagnosed as congenital cataract and shows a poor postoperative BCVA.PHPV occurs mainly due to an incomplete regression of the embryonic vitreous and hyaloid vasculature and eventual abnormality of lens.

Evaluation of the care characteristics of ophthalmic emergencies in a public hospital in greater São Paulo / Avaliação das características do atendimento de urgências oftalmológicas em um hospital público da Grande São Paulo

Purpose: Evaluate the characteristics of patients seen in the emergency department of ophthalmology in order to identify measures to improve the effectiveness of care and guide the enhancement of other emergency services. Methods: Cross-sectional, observational study with 300 patients treated at the Municipal Hospital of Santo Andre - Sao Paulo from 15 to 22 august 2011. Data were collected through interviews with patients based on a questionnaire. Results: It was observed that 73.7% lived at a distance of up to 20 km from the hospital and 71.6% of real emergencies and 61.3% of false emergencies sought treatment within a week of the onset of symptoms. Conclusions: Considered the need to provide information to the population about the type and severity of ocular emergencies, with emphasis on prevention and the importance of the most prevalent diseases such as corneal foreign body and corneal ulcer, and health policies aimed at creation of regional centers of specialized care in order to minimize barriers to access and increase the speed in the treatment of ocular emergencies.

Objetivo: Avaliar as características dos pacientes atendidos no pronto socorro de oftalmologia, a fim de identificar medidas que melhorem a eficácia do atendimento e nortear o aprimoramento de outros serviços de urgência. Métodos: Estudo transversal e observacional, com 300 pacientes, atendidos no Hospital Municipal de Santo André (SP), de 15 a 22 de agosto de 2011. Os dados foram coletados por meio de avaliação clínica e de entrevistas com pacientes baseadas em um questionário. Resultados: Observou-se que 73,7% residiam a uma distância de até 20 km do hospital, 71,6% das urgências verdadeiras e 61,3% das urgências falsas procuraram atendimento em até uma semana do início dos sintomas. Conclusão: Considera-se a necessidade de disponibilizar para a população informações a respeito do tipo e da gravidade de urgências oculares, com ênfase na prevenção e na importância das doenças mais prevalentes, como corpo estranho corneano e úlcera de córnea, além de políticas de saúde direcionadas à criação de centros de atendimento especializados regionais, a fim de minimizar barreiras para acesso e aumentar a rapidez no tratamento de urgências oculares.

A new understanding of Pax6, a master regulator in eye and brain development / 中华实验眼科杂志

Background Paired box gene 6 (Pax6) is a master regulator for eye and brain development.Pax6 mutations or changes in its expression cause a series of ocular diseases including absence of iris,corneal opacity,cataract,glaucoma,abnormal fovea,retinoblastoma,and Wilm's tumor-aniridia-qenital ahormalies-retardation (WAGR).As a transcription factor,it is expressed in the region of anterior surface ectoderm corresponding to the future adenohypophyseal,olfactory and lens placodes,optic vesicle and other parts of the future brain and thus control the development of eye,brain,pituitary grand,nose and pancreas.Pax6 exists in 4 different isoforms,whose functions are subjected to regulation by different post-translation modifications.A complete understanding of the structure and functions of Pax6 and its associations with relevant diseases is helpful for ophthalmologists to investigate the pathogenesis and treatment of implicated ocular diseases caused by Pax6 gene mutation or changing in its expression.

Congenital Aniridia: Long-term Clinical Course, Visual Outcome, and Prognostic Factors

PURPOSE: To describe the clinical course of congenital aniridia and to evaluate prognostic factors for visual outcome after long-term follow-up. METHODS: The medical records of 120 eyes from 60 patients with congenital aniridia were retrospectively reviewed. The prevalence and clinical course of ophthalmic characteristics, systemic disease, refractive errors, and visual acuity were assessed. Prognostic factors for final visual outcomes were analyzed. RESULTS: Aniridic keratopathy developed in 82 (69%) of 119 eyes. Macular hypoplasia was observed in 70 eyes of 35 patients (91%). Cataract was observed in 63 of 120 eyes (53%). Nystagmus was present in 41 patients (68% of 60 patients) at the initial visit but decreased in five patients (8% of 60 patients). Ocular hypertension was detected in 19 eyes (20% of 93 eyes), six (32% of 19 eyes) of which developed secondarily after cataract surgery. The mean changes in spherical equivalent and astigmatism during the follow-up period were -1.10 and 1.53 diopter, respectively. The mean final visual acuity was 1.028 logarithm of minimal angle of resolution. Nystagmus and ocular hypertension were identified as prognostic factors for poor visual outcome. CONCLUSIONS: Identification of nystagmus and ocular hypertension was important to predict final visual outcome. Based on the high rate of secondary ocular hypertension after cataract surgery, careful management is needed.

Idiopathic dilated episcleral vessels (Radius-Maumenee syndrome): case report / Dilatação idiopática dos vasos episclerais (síndrome de Radius-Maumenee): relato de caso

Radius-Maumenee syndrome comprises idiopathic dilated episcleral vessels that are usually associated with glaucoma. The case described herein is of a male patient, 69 years old, with chronic dilation of the episcleral vessels and glaucoma in his left eye, with no history of systemic disease. Visual acuity and fundoscopy were normal in both eyes. Tonometry measured 14 mmHg in the right eye and 25 mmHg in the left. Computed tomography angiography (CTA) was negative for carotid-cavernous fistula. The intraocular pressure of the left eye decreased to 20 mmHg with clinical treatment without regression of episcleral venous dilation. Trabeculectomy normalized the intraocular pressure and reduced the vessels. There was choroidal effusion on day 16 of the postoperative period, which resolved with corticosteroids. Although choroidal effusion can occur, the efficacy of trabeculectomy in controlling glaucoma and the reduction of episcleral vessels are clearly demonstrated.

A síndrome de Radius-Maumenee consiste na dilatação idiopática dos vasos episclerais geralmente associada ao glaucoma. Descreve-se o caso de paciente masculino, 69 anos, portador de dilatação crônica dos vasos episclerais e glaucoma do olho esquerdo, sem histórico de doença sistêmica. A acuidade visual e fundoscopia apresentaram-se normais em ambos os olhos. A tonometria mediu 14 mmHg no olho direito e 25 mmHg no esquerdo. A angiotomografia foi negativa para fístula carotídeo-cavernosa. A pressão intraocular do olho esquerdo diminuiu para 20 mmHg com tratamento clínico, sem regressão da dilatação venosa episcleral. A trabeculectomia normalizou a pressão intraocular e reduziu os vasos. Houve efusão coroidiana no 16º dia de pós-operatório que regrediu com corticoterapia. Embora possa ocorrer efusão coroidiana, destaca-se a eficácia da trabeculectomia no controle do glaucoma e na redução dos vasos episclerais.

Holoprosencefalia: a proposito de un caso / Holoprosencephaly: report a case

Se reporta el caso de una mujer de 22 años de edad, sin antecedentes de importancia. Fue admitida en el hospital, enpródromos de trabajo de parto, gestación de 40 semanas y malformación cerebral: holoprosencefalia semilobar, hipotelorismo, hidronefrosis derecha leve (diagnóstico ecográfico). Es intervenida mediante la operación cesáreaobteniéndose un recién nacido con características de holoprosencefalia siendo lo resaltante el hipotelorismo y laarrinencefalia. No presenta llanto al nacimiento, por lo que se le realiza maniobras de reanimación cardio pulmonar, continùaen mal estado general con periodos de apnea, baja saturación, expansibilidad torácica disminuida, se procede a colocaciónde tubo endotraqueal, administración de adrenalina, es llevada al servicio de unidad de cuidados intensivos pediátricos,presentando en el trayecto dos episodios de paro cardiaco, el menor luego es colocado en ventilador mecánico, no teniendouna buena evolución ,fallece el día siguiente de nacido.

It is reported the case of a woman, 22 years of age, without important background information. She was admitted to the hospital, in premonitory signs of 40 weeks and cerebral malformation: semilbar holoprosencephaly, hipotelorismo, mild right hydronephrosis (sonographic diagnosis). She is operated by the cesarean section obtaining a newborn with characteristics of holoprosencephaly remains what the striking hipotelorismo and arrinencefalia. There is no crying at birth, by what is realized maneuvers cardio pulmonary resuscitation, continues un poor condition general, with periods of apnea, low saturation, chest diminished expansibility, so proceeded to endotracheal tube placement, placement of adrenaline, is taken to the pediatric intensive care units, presenting in the journey two episodes of cardiac arrest, the minor then is placed on mechanical ventilator, not taking a good evolution, dies the net day of birth.