ABSTRACT
Abstract The presence of retinal myelinated nerve fibers is not a rare finding during routine examinations, and it is usually a benign and isolated finding. However, in some rare cases, it can be associated with other ophthalmological conditions. We describe a case of a patient with the triad myelin nerve fibers, myopia and ambliopia, which configures the Straatsma Syndrome.
Resumo A presença de fibras de mielina é um achado comum durante exames oftalmológicos de rotina. Na maior parte das vezes, tem caráter beningno e é um achado isolado. No entanto, em alguns raros casos, a presença de mielinização pode estar associada a outras condições oftalmológicas. Descrevemos um caso de paciente com a tríade presença de fibras nervosas retinianas mielinizadas, miopia, e ambliopia, configurando a síndrome de Straatsma.
Subject(s)
Humans , Female , Middle Aged , Retinal Diseases/diagnosis , Amblyopia/diagnosis , Myopia/diagnosis , Nerve Fibers, Myelinated/pathology , Ophthalmoscopy , Optic Nerve/abnormalities , Visual Acuity , Anisometropia , Tomography, Optical Coherence , Fundus Oculi , Myelin SheathABSTRACT
Point-of-care ultrasound ismodifying conducts in emergency care. The variousmedical specialties, in addition to traditional indications in cases of multiple trauma, are using this technique for rapid diagnosis at the bedside without patient mobilization and without radiation. Point-of-care ultrasound in neurocritical patients, through its transorbital window, can estimate the intracranial pressure by a non-invasive method. Through the measurement of the diameter of the optic nerve sheath 3mmposterior to the retina, the intracranial pressure is estimated if the value of the diameter is >5mm, as it has been verified in other studies. The present article describes the most current data on this topic, and it also highlights the need formoremulticentric and randomized trials to determine the correct cut-off points that represent the high sensibility and specificity of the method.
Subject(s)
Optic Nerve/abnormalities , Ultrasonography/methods , Point-of-Care Systems/trends , Intracranial Hypertension/diagnostic imaging , Ambulatory CareSubject(s)
Humans , Male , Infant , Septo-Optic Dysplasia/diagnostic imaging , Optic Nerve/abnormalities , Septum Pellucidum/diagnostic imaging , Skull/diagnostic imaging , Brain/diagnostic imaging , Magnetic Resonance Spectroscopy , Tomography, X-Ray Computed , Ultrasonography , Abdomen/diagnostic imaging , Jaundice/diagnostic imagingABSTRACT
Se realizó una revisión bibliográfica con el objetivo de ampliar el conocimiento sobre la maculopatía relacionada con la foseta del nervio óptico, su fisiopatología, así como sus principales manifestaciones, diagnóstico clínico, angiográfico y por tomografía de coherencia óptica, y describir algunos de los tratamientos que se han utilizado recientemente a nivel mundial. Se tuvieron en cuenta las tendencias actuales de tratamiento. Se consultaron fundamentalmente artículos científicos de revistas publicados en las bases de datos PubMED y Cochrane, así como textos básicos que abordan este tema en los últimos 5 años, a través de Google como motor de búsqueda. A pesar de que se trata de una enfermedad infrecuente, su manejo suele resultar difícil, especialmente cuando existe afectación macular. En nuestro trabajo constatamos que la mayoría de los estudios utilizan muestras pequeñas, son retrospectivos, no comparativos y no ramdomizados. Sin embargo, se encontraron modalidades de tratamiento que han sido utilizadas por años y más recientemente descripciones de nuevas técnicas que requerirán futuros estudios. No existe un consenso sobre un protocolo ideal de tratamiento para esta entidad(AU)
A literature review was made to expand knowledge on the optic nerve head pit-related maculopathy, its physiopathology and main manifestations, clinical and angiographic diagnosis, optical coherence tomography, and to describe some of the treatments recently used worldwide. The current therapeutic tendencies were taken into account. The fundamental sources of information were scientific articles from journals in PubMED and Cochrane databases as well as basic texts which dealt with this topic in the last five years through Google search engine. Despite the rare occurrence of the disease, its management may be difficult particularly in macular effect cases. This paper confirmed that most of the studies used small samples, were retrospective, non-comparative and non-randomized. However, some therapeutic modalities were found, which have been used for years and also descriptions of new techniques that require further research. There is no consensus on the ideal treatment protocol for this disease(AU)
Subject(s)
Humans , Aged , Databases, Bibliographic/statistics & numerical data , Macular Degeneration/pathology , Optic Nerve/abnormalities , Review Literature as Topic , Tomography, Optical Coherence/methodsABSTRACT
ABSTRACT Purpose: In 2015, a twenty-fold increase in the prevalence of microcephaly in Brazil was reported, and the Ministry of Health associated this abnormal prevalence with the maternal-fetal Zika virus (ZIKV) transmission. Methods: We assessed the ophthalmological findings of ten mothers and their infants that had been clinically diagnosed with ZIKV-related microcephaly and presented ocular abnormalities, born from May to December 2015. Results: Seven mothers (70.0%) referred symptoms during pregnancy (malaise, rash and arthralgia), of which six (85.7%) were in the first trimester. At the time of exam, no ophthalmological abnormalities were identified in the mothers and they did not report ocular symptoms during pregnancy. Serology was negative in all infants for Toxoplasmosis, Rubella, Cytomegalovirus, Syphilis and Human Immunodeficiency Viruses. Ocular findings included macular alterations (gross pigment mottling and/or chorioretinal atrophy) in fifteen eyes (75.0%), and optic nerve abnormalities (hypoplasia with double-ring sign, pallor, and/or increased cup-to-disk ratio) in nine eyes (45.0%). Conclusions: Patients presented normal anterior segment and important macular and optic nerve abnormalities. Further studies will assess the visual significance of these alterations.
RESUMO Introdução: No ano de 2015, foi identificado no Brasil um aumento da prevalência de microcefalia em vinte vezes. Esta malformação foi associada pelo Ministério da Saúde à transmissão vertical do Zika vírus (ZIKV). Método: Investigamos dez lactentes com diagnóstico clínico presumido de microcefalia relacionada à ZIKV, que apresentavam anormalidades oculares, nascidos entre maio e dezembro de 2015. Resultados: Sete mães (70,0%) relataram sintomas (mal-estar, rash e artralgia) durante a gestação, sendo seis (85,7%) no primeiro trimestre. No dia da avaliação nenhuma alteração ocular foi identificada nas mães e elas não relataram sintomas oculares durante a gestação. Sorologia foi negativa para toxoplasmose, rubéola, citomegalovírus, sífilis e vírus da imunodeficiência adquirida (HIV) em todos os lactentes. Os achados oculares incluíram alterações maculares (depósito pigmentar grosseiro e/ou atrofia coriorretiniana) em 15 olhos (75,0%) e alterações do nervo óptico (hipoplasia do disco com sinal do duplo anel, palidez e/ou aumento da escavação papilar) em nove olhos (45,0%). Conclusões: Os pacientes apresentaram segmento anterior normal e importantes e anormalidades maculares e do nervo óptico. Estudos futuros vão avaliar a importância destas alterações visuais.
Subject(s)
Adult , Female , Humans , Infant, Newborn , Male , Pregnancy , Eye Abnormalities/virology , Microcephaly/virology , Pregnancy Complications, Infectious/virology , Zika Virus Infection/complications , Brazil , Eye Abnormalities/pathology , Fundus Oculi , Macula Lutea/abnormalities , Ophthalmoscopy/methods , Optic Nerve/abnormalitiesABSTRACT
Baraitser-Winter syndrome [BRWS] is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcor-nea, iris, choroid, and optic nerve coloboma, retinal detachment, and mental retardation. She has also frontal bossing, prominent forehead, thick eyebrows, transverse slanting, hypertelorism, wide palpebral fissures, and nystagmus. The nose is broad, and bulbous with wide nares, and broad nasal tip. She has also low set posteriorly rotated ears, full cheeks, long philtrum, large mouth [macrostomia], gum hypertrophy, decayed teeth, high arched palate, pointed chin, short neck, low posterior hair line, partial left simian crease, and short fingers. MRI brain shows frontal poly-microgyria. This patient represents a mild case of Baraitser-Winter syndrome
Subject(s)
Humans , Female , Optic Nerve/abnormalities , Coloboma/genetics , Intellectual Disability , ChildABSTRACT
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.
Subject(s)
Adolescent , Humans , Male , Abnormalities, Multiple , Anterior Eye Segment/abnormalities , Choroid/abnormalities , Coloboma/diagnosis , Corneal Opacity/diagnosis , Diagnosis, Differential , Eye Abnormalities/diagnosis , Microscopy, Acoustic , Optic Nerve/abnormalities , Retina/abnormalitiesABSTRACT
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.
Subject(s)
Adolescent , Humans , Male , Abnormalities, Multiple , Anterior Eye Segment/abnormalities , Choroid/abnormalities , Coloboma/diagnosis , Corneal Opacity/diagnosis , Diagnosis, Differential , Eye Abnormalities/diagnosis , Microscopy, Acoustic , Optic Nerve/abnormalities , Retina/abnormalitiesABSTRACT
Clinicopathologic findings of a 44-year-old Caucasian male who presented with a congenital bilateral chorioretinal coloboma and later developed a large choroidal melanoma in his best seeing eye. The eye containing the malignant tumor was enucleated and the histopathologic findings confirmed the clinical diagnosis of choroidal melanoma, and in this case, an epithelioid cell type.
Achados clinicopatológicos de um paciente de 44 anos, branco, do sexo masculino, que apresentava coloboma bilateral congênito de retina e coróide e que, posteriormente, desenvolveu um grande melanoma da coróide no seu olho de melhor visão. O olho contendo o tumor maligno foi enucleado e os achados histopatológicos confirmaram o diagnóstico clínico de melanoma de coróide, neste caso do tipo celular epitelióide.
Subject(s)
Adult , Humans , Male , Choroid Neoplasms/complications , Coloboma/complications , Fovea Centralis/abnormalities , Melanoma/complications , Optic Nerve/abnormalities , Melanoma/pathologyABSTRACT
La displasia septo-óptica o síndrome de De Morsier es un trastornopoco usual del desarrollo embrionario. Consiste en la hipoplasia de uno o ambos nervios ópticos, malformacionescerebrales de la línea media y disfunción hipotálamo-hipofisaria, la cual es inconstante. En el presente trabajo se describen los hallazgos de 9 pacientes con displasia septo-óptica.
Subject(s)
Humans , Male , Infant , Child, Preschool , Child , Female , Optic Nerve/abnormalities , Septo-Optic Dysplasia , Strabismus , Septum Pellucidum/abnormalities , Psychomotor Disorders/congenitalABSTRACT
Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.
Subject(s)
Child, Preschool , Female , Humans , Abnormalities, Multiple , Anterior Eye Segment/abnormalities , Eye Abnormalities/diagnosis , Eye Movements , Follow-Up Studies , Oculomotor Muscles/abnormalities , Ophthalmologic Surgical Procedures/adverse effects , Optic Nerve/abnormalities , Postoperative Complications , Sclera/pathology , Syndrome , Tooth Abnormalities/geneticsABSTRACT
Septo-optic dysplasia (SOD) is a congenital anomaly, that is characterized by a triad of optic nerve hypoplasia, structural brain defects, and hypothalamic-pituitary dysfunction. This condition is very rare and it has never been reported in a Thai population. In the present report, the authors described two SOD cases that presented with primary amenorrhea and abnormal pubertal development. Clinical features. Possible etiology of this condition was reviewed
Subject(s)
Abnormalities, Multiple , Adolescent , Adult , Amenorrhea , Blindness , Brain/abnormalities , Female , Humans , Hypothalamic Diseases/physiopathology , Magnetic Resonance Imaging , Nervous System Malformations , Optic Nerve/abnormalities , Pituitary Diseases/physiopathology , Pituitary Gland/abnormalities , Puberty , Septo-Optic Dysplasia/etiologyABSTRACT
Introducción: La displasia septo-óptica es una enfermedad congénita caracterizada por hipoplasia de uno o ambos nervios ópticos que se acompaña de malformaciones cerebrales de la línea media y disfunción hipotálamo-hipofisiaria. Objetivo: Mostrar un caso ilustrativo del estudio de pacientes con anoftalmía y retraso psicomotor, con énfasis en los diagnósticos diferenciales. Caso clínico: Lactante femenina de 18 meses de edad con anoftalmía bilateral, asociada con ausencia en el desarrollo de los nervios ópticos e hipoplasia del septum pellucidum corroborada por tomografía craneal, el cariotipo normal descartó la posibilidad de cromosomopatía. Conclusión: Caso clínico esporádico de displasia septo-óptica: síndrome de De Morsier extremo sin manifestaciones neurológicas o endocrinológicas.
Subject(s)
Humans , Female , Infant , Anophthalmos/etiology , Anophthalmos/physiopathology , Septo-Optic Dysplasia/complications , Optic Nerve/abnormalities , Septum Pellucidum/abnormalities , Cerebrum/abnormalities , Diagnosis, Differential , Hypothalamic Diseases/complications , Hyperplasia , SyndromeABSTRACT
This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm, optic tracts and optic radiation were absent. The chromosomal examination was normal. Mild mental retardation was also observed. Apart from the rarity of the anophthalmos and the total absence of the optic pathways, no etiologic reason for this pathology could be detected, which makes this case more significant.
Subject(s)
Adult , Female , Humans , Abnormalities, Multiple/diagnosis , Anophthalmos/complications , Magnetic Resonance Imaging , Intellectual Disability/complications , Optic Chiasm/abnormalities , Optic Nerve/abnormalities , Visual Pathways/abnormalitiesABSTRACT
We report a case of bilateral, solitary hypertrophy of retinal pigment epithelium [CHRPE] and optic nerve hypoplasia in a 4-month-old boy with velocardio-facial syndrome [VCFS]. CHRPE has not been described in VCFS earlier. The differential diagnosis and embryogenesis of this pigmented lesion are discussed
Subject(s)
Humans , Male , Retina/pathology , Optic Nerve/pathology , Optic Nerve/abnormalities , Eye Abnormalities , Syndrome , Diagnosis, DifferentialABSTRACT
To describe the association between optic disc traction and non-arthritic anterior ischemic optic neuropathy [NAION].eighty three eyes of 83 patients with NAION were evaluated by optical coherence tomography [OCT] for detecting vitreous adhesion to the optic never head with separation form adjacent retina [partial posterior vitreous detachment]. Those who were negative for such adhesion underwent ultrasonography to detect complete PVD. Fifty male and 33 female subjects with mean age of 51.9 +/- 10yr were studied. Partial PVD with optic never head adhesion was found in 54 patients [65.1%] using OCT. Ultrasonography found complete PVD in all eyes with optically empty spaces in OCT. Vitreous traction on optic never head from PVD may play a causative role in some cases of NAION. This traction may impair vascular supply and axoplasmic flow leading to signs and symptoms of NAION
Subject(s)
Humans , Male , Female , Female , Optic Neuropathy, Ischemic/pathology , Optic Nerve/anatomy & histology , Optic Nerve/abnormalities , Traction , Ultrasonography , Optic Nerve/blood supply , Risk FactorsABSTRACT
The clinical triad of septo-optic dysplasia (SOD) comprises the abscence of the septum pellucidum, congenital optic nerve dysplasia, and multiple endocrine disorders. When any two of these factors are present, the condition is defined as an imcomplete form of SOD. The authors report the case of an imcomplete form of SOD in a 9-year old boy with low vision and nystagmus present from birth. The bilateral ophthalmoscopic examination revealed small papillae with double countour images. Magnetic resonance imaging showed hypoplasia of the optic nerve bilaterally, chiasm and absence of the septum pellucidum.
Subject(s)
Humans , Male , Child , Vision, Low/congenital , Optic Disk/abnormalities , Optic Disk/pathology , Optic Nerve Diseases/diagnosis , Septo-Optic Dysplasia/congenital , Optic Nerve/abnormalities , Optic Nerve/pathology , Nystagmus, Congenital , Septum Pellucidum/abnormalities , Septum Pellucidum/pathologyABSTRACT
A rare case of optic nerve entrance coloboma associated with situs inversus is reported.
Subject(s)
Adult , Coloboma/complications , Female , Fundus Oculi , Humans , Optic Nerve/abnormalities , Optic Nerve Diseases/congenital , Situs Inversus/complications , Visual FieldsABSTRACT
Os autores relatam 3 casos de fosseta congênita de disco óptico mostrando, por meio de imagens de tomografia de coerência óptica, os diversos estágios do descolamento retiniano secundário, desde a separaçäo das camadas retinianas mais internas, formaçäo de cistos intraretinianos até o descolamento seroso da retina neurosensorial.
Subject(s)
Humans , Female , Adolescent , Adult , Optic Nerve/abnormalities , Tomography, X-Ray Computed , Retinal DetachmentABSTRACT
Introdução: Morning Glory é uma das anomalias congênitas escavadas do disco óptico caracterizada por alterações na sua conformação, estrutura e função, que atinge o tecido coriorretiniano adjacente a este. O objetivo deste trabalho é relatar três casos desta anomalia. Pacientes e métodos: Três pacientes portadores de Morning Glory foram submetidos a exame oftalmológico completo, analisando suas associações com outras alterações oculares. Resultados: Dos três pacientes, um apresentou acuidade visual de 20/80, um apresentou visão de vultos e o terceiro paciente não foi possível a mensuração da acuidade visual devido a não colaboração. Discussão: A anomalia de Morning Glory é uma patologia congênita escavada do nervo óptico que pode cursar com acuidade visual que pode variar de 20/20 à percepção luminosa. Uma das causas da baixa de acuidade visual é o descolamento de retina que pode vir associado em 30 por cento dos casos.