Lensectomía refractiva en coloboma de iris / Refractive lensectomy for iris coloboma

RESUMEN El coloboma de iris es un defecto congénito, que se describe como un orificio, fisura o hendidura en dicha estructura.​ Esta condición tiene la posibilidad de ser hereditaria o aparecer sin historia familiar previa. Se presenta un caso de un paciente de 51 años de edad con coloboma bilateral de iris asimétrico e hipermetropía, quien acudió a la consulta médica con el deseo de independizarse de su corrección óptica habitual. Se propuso cirugía facorrefractiva de ambos ojos con pupiloplastia del ojo derecho, en el que se obtuvieron resultados visuales satisfactorios después de la intervención quirúrgica(AU)

ABSTRACT The iris coloboma is a congenital defect, present since birth, which is described as a hole, fissure or cleft in the mentioned structure. This condition has the possibility of being inherited or can appear without previous family history. The case is presented of a 51-year-old patient with bilateral asymmetric iris coloboma and farsightedness. The patient went to the doctor's office with the desire to become independent of his usual optical correction. Facorrefractive surgery of both eyes with pupilloplasty of the right eye was proposed, in which satisfactory visual results were obtained after the intervention(AU)

Síndrome de Pai: dos nuevos casos con manifestaciones inusuales / Pai syndrome: Two new cases with unusual manifestations

El síndrome de Pai se describe como la presencia de 3 anomalías congénitas: fisura de labio medial, pólipos cutáneos nasales y faciales, y lipoma pericallosal. La expresión clínica es variable. El desarrollo neuromadurativo suele ser normal. Existen 42 casos descritos en la literatura. Se proponen distintos tipos de herencia, pero, hasta la actualidad, no existe un gen asignado para esta patología. Se presentan dos pacientes con síndrome de Pai, uno de ellos con hallazgos clínicos aún no descritos (defectos de segmentación vertebral y osteoma coroideo).

Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 cases have been reported in the literature. Different types of inheritance have been proposed, but most cases are sporadic. No gene has been identified. We report two cases with Pai syndrome, one of them with novel clinical findings as vertebral segmentation defects and choroidal osteoma.

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.

Coloboma ocular como hallazgo incidental. Reporte de caso / Ocular coloboma as incidental finding. A case report

El coloboma ocular es una entidad infrecuente provocada por el cierre incompleto de la fisura embrionaria entre la quinta y la séptima semana de gestación. Se presenta el caso de una paciente de 6 años admitida por urgencias por presentar trauma contundente en el ojo derecho, es valorada por oftalmología, que encuentra en la ecografía ocular bilateral, compromiso de ojo derecho con ectasia y herniación secundaria del humor vítreo hacia la pared posterior del globo ocular y desarrollo anormal de la retina, coroides y esclera. Se decide realizar procedimiento quirúrgico que se lleva a cabo sin complicaciones. Patología reporta, cambios de metaplasia del contenido "Uveo-retiniano", formando cartílago, musculo y tejido adiposo, que se dispone de forma desordenada en un estroma fibroso, realizando diagnóstico de Coloboma Uveal.

Ocular coloboma is an uncommon condition caused by an incomplete closure of the embryonic fissure between the fifth and the seventh week of gestation. We reported a case of a 6 year old patient who was evaluated by ophthalmology service at emergency room after blunt trauma in the right eye. Patient was evalutated bilaterally with ocular ultrasound which showed, commitment ectasia right eye and vitreous herniation secondary to posterior wall eyeball and abnormal development of the retina, choroid and sclera. Was decided to perform a surgical procedure is performed without complications. Pathology reports, content metaplastic changes "uveo-retinal" forming cartilage, muscle and adipose tissue, which is arranged in a disorderly manner in a fibrous stroma, making diagnosis of Uveal Coloboma.

Obstrucción nasal unilateral en niños: Síndrome de Pai / Unilateral nasal obstruction in children: Pai syndrome

La obstrucción unilateral de las fosas nasales en niños es causada principalmente por la introducción de cuerpos extraños, se manifiesta con rinorrea y olor fétido. Con menor frecuencia, puede ser de origen traumático, neoplásico, malformativo congénito o iatrogénico. Los síntomas de una masa intranasal congénita pueden manifestarse desde el nacimiento, o pasar desapercibidos y ser un hallazgo en un examen pediátrico de rutina. La evaluación del paciente debe incluir estudios por imágenes para orientar al diagnóstico y descartar una extensión intracraneal. Un síndrome asociado al tumor nasal congénito debe sospecharse cuando existen otras anomalías. El síndrome de Pai es un trastorno genético raro. Sus manifestaciones son craneofaciales y su marcador principal es el pólipo nasal congénito. Presentamos un paciente con insuficiencia ventilatoria nasal unilateral secundaria a un lipoma nasal congénito, junto a anomalías craneofaciales del síndrome de Pai. La obstrucción nasal fue resuelta quirúrgicamente en forma exitosa.

Unilateral obstruction of the nasal cavity in children is mainly caused by the introduction of foreign bodies further stated with rhinorrhea and fetid odor. Less commonly, it can be traumatic, neoplastic, due to congenital malformation or iatrogenic. Symptoms of congenital intranasal mass may present at birth, or go unnoticed and be a finding in a routine pediatric examination. Patient evaluation should include imaging studies to guide the diagnosis and rule out intracranial extension. A syndrome associated with congenital nasal tumor should be suspected when other abnormalities are present. Pai syndrome is a rare genetic disorder. Its manifestations are craniofacial being congenital nasal polyp his main marker. We present a patient with unilateral nasal respiratory failure secondary to congenital nasal lipoma, with craniofacial anomalies belonging to Pai syndrome. Nasal obstruction was successfully surgically resolved.

Nasopalpebral lipoma coloboma syndrome.

Nasopalpebral lipoma–coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.

Unilateral Peters' Anomaly with Chorioretinal Coloboma in the Other Eye

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.

Unilateral Peters' Anomaly with Chorioretinal Coloboma in the Other Eye

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.

Selected malformations of the optic nerve head - morphology etiology and associations

Although individually rare, congenital malformations of the optic nerve head can be associated with significant visual morbidity, other ocular malformations, and systemic disorders, some of which life-threatening. This paper reviews the clinical features that allow the differentiation of typical colobomas of the optic nerve head from the morning glory disk anomaly. The former can be inherited and are associated with a variety of systemic syndromes and malformations; the latter are not inherited and are associated notoriously with basal encephaloceles and with Moyamoya disease of the carotid vascular system. Finally, the papillo-renal syndrome and the PHACE syndrome are briefly reviewed and their associated optic nerve malformations delineated

Optical Coherence Tomographic Finding in a Case of Macular Coloboma

PURPOSE: To report the optical coherence tomography (OCT) findings in a patient with unilateral macular coloboma. METHODS: A 12-year-old male was presented with macular coloboma in the left eye. The optical coherence tomography was performed with fluorescein angiography (FA). RESULTS: The OCT revealed the crater-like depression in the macula, demonstrating atrophic neurosensory retina, and an absence of retinal pigment epithelium and choroid in the lesion. FA showed hypofluorescence corresponding to the size of the lesion in both early and late frames without leakage of dye at any stage. CONCLUSIONS: The OCT can be beneficial to confirm the diagnosis of macular coloboma.

Anomalias congênitas do disco óptico associadas à doença de Moyamoya: relato de caso / Congenital anomalies of the optic disc associated with Moyamoya disease: case report

As anomalias congênitas do disco óptico podem estar associadas a anormalidades vasculares intracranianas. Relatamos o caso de um paciente de 9 anos com anomalia do disco óptico tipo morning glory em um olho e coloboma do disco óptico e coróide infrapapilar no outro. O paciente apresentava história pregressa de ataque isquêmico transitório e angioressonância cerebral consistente com doença de moyamoya. O presente relato ilustra a importante associação das anomalias congênitas do disco óptico com a doença de moyamoya. O exame fundoscópico de pacientes suspeitos pode trazer subsídios ao diagnóstico clínico, abrindo a possibilidade do reconhecimento precoce das anormalidades vasculares intracranianas encontradas no moyamoya, aumentando a perspectiva de eventual intervenção profilática frente às potenciais complicações.

Optic disc imaging by Heidelberg retinal tomogram in congenital optic disc anomaly.

We evaluated two cases of congenital optic disc anomaly with the Heidelberg Retinal Tomograph (HRT) that could be mistaken for glaucomatous optic disc. One was an optic disc coloboma with a visual field defect and the other had an optic disc pit without a visual field defect. HRT was abnormal only in the eye with optic disc pit with normal fields. While HRT can be a valuable adjunct to disc evaluation and follow-up, it cannot be used in isolation in the differentiation of abnormal from normal optic discs.

Coloboma bilateral de nervio óptico y mácula y fisuras faciales raras en una niña con síndrome de Roberts. Reporte de un caso / Optic nerve and macular bilateral coloboma and unusual facial features in a girl having Robert's syndrome diagnosys. Case report

El síndrome de Roberts o de Pseudotalidomida es una alteración genética transmitida en forma autosómica recesiva que se caracteriza por múltiples malformaciones craneofaciales y de los miembros pélvicos y torácicos, con retardo en el crecimiento tanto físico como mental, en el 79.2 por ciento de 48 casos se ha reportado la separación prematura de la heterocromatina cerca del centrómero, principalmente de los cromosomas, 1, 9, 16 interpretándose como un síndrome de inestabilidad cromosómica. Presentamos el caso de una paciente con síndrome de Roberts, la cual presenta además de las características clínicas propias de este padecimiento, coloboma bilateral del nervio óptico y mácula

Clinical characteristics of CHARGE syndrome

CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.

Associaçäo CHARGE / CHARGE association

Os autores descrevem a associaçäo CHARGE - etiologia, quadro clínico, diagnóstico diferencial, prognóstico e seus casos estudados. Enfatizam a importância de pesquisa sistemática de outras anomalias em uma criança com atresia de coanas e/ou coloboma de iris