Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.

BACKGROUND: 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is deleted. CASE PRESENTATION: We report a patient with intellectual disability, psychomotor development delay, hearing loss with disyllable pronunciation only, hyperactivity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial polydactyly, and for the first time in patients with Dup22q11.2, optic nerve coloboma and dysplasia in optic nerve. Array comparative genomic hybridization showed a 22q11.23 duplication of 1.306 million base pairs. CONCLUSIONS: New ocular findings in Dup22q11.2 syndrome, such as coloboma and dysplasia in the optic nerve, are reported here, contributing to the phenotypic characterization of a rarely diagnosed genetic syndrome. A complete characterization of the phenotype is necessary to increase the rate of clinical suspicion and then the genetic diagnostic. In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.

Straatsma syndrome / Síndrome de Straatsma

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.

Sensitivity and specificity of the red reflex in Costa Rican newborns. / Sensibilidad y especificidad del reflejo rojo en recién nacidos en Costa Rica.

OBJECTIVE: To compare the results of indirect ophthalmoscopy versus determination of the red reflex in newborns admitted to the intermediate neonatal intensive care unit. METHODS: All the patients (71) admitted to the intermediate neonatal intensive care unit from July to September of 2017 were screened with the red reflex. Immediately afterwards, they were pharmacologically dilated and indirect ophthalmoscopy was performed. All of the red-reflex screening and the funduscopic examination were performed by the same evaluator. RESULTS: A total of 14.1% (20/142) of the eyes had an altered red reflex. Indirect ophthalmoscopy revealed that 21.8% (31/142) of the eyes had intraocular abnormalities. Two of these eyes had optic nerve colobomas, two eyes had cataracts, and the rest had intra-retinal haemorrhages. Indirect ophthalmoscopy revealed that only 35% (7/20) of the eyes with an altered red reflex had intraocular disease. Indirect ophthalmoscopy also revealed that intraocular disease was present in 77.4% (24/31) of the eyes despite a normal red reflex. The false positive rate of the red reflex was calculated to be 9.2%, and the false negative rate was 16.9%. The sensitivity of the red reflex was only 56.4%, and the specificity was 89.5%. The positive predictive value was 70.4%, and the negative predictive value was 82.2%. CONCLUSIONS: Neonatal screening with the red reflex is not sufficient to detect intraocular disease. A normal neonatal red reflex does no exclude intraocular disease. It has a specificity of nearly 90%, but its sensitivity is only 56%. Most retinal haemorrhages are undiagnosed as they cannot be detected with a red reflex.

Non-Invasive Intracranial Pressure Evaluation in an Emergency Room ­ Point-of-Care Ultrasonography

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.

A hybrid coloboma and optic disc pit associated with macular retinoschisis.

BACKGROUND: To report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye. CASE PRESENTATION: A 21-year-old woman presented with optic disc pit in the right eye and optic disc coloboma with a focal pit like excavation in the left eye. Macular spectral domain optical coherence tomography (SD-OCT) of the left eye revealed macular retinoschisis, without serous detachment. CONCLUSIONS: Proper monitoring of patients with disc anomalies associated with maculopathy is mandatory. The use of OCT imaging during follow-up can help to identify involvement of the fovea or enlargement of the retinoschisis area.

[Extension of TORCH spectrum in ophthalmology: congenital Zika, case report]. / Ampliación del espectro TORCH en oftalmología: Zika congénito, reporte de un caso.

BACKGROUND: Zika is a flavivirus that can be transmitted transplacentally. Eye abnormalities have been reported in 70% of Zika cases, and 41.7% of them can occur in the absence of microcephaly. The most common ocular abnormalities are macular atrophy, optic atrophy and chorioretinal coloboma. The objective was to report the case of eye disorders associated with Zika, acquired transplacentally, despite negative results for TORCH, and serology and PCR analyses for Zika. CLINICAL CASE: 9-month-old female patient, born in Chiapas, Mexico, brought to an ophthalmologic evaluation because she did not follow objects. As family background patient's mother had Zika, confirmed serologically at 9 weeks gestation. Physical examination revealed microcephaly, redundant skin on neck, joint stiffness and delayed psychomotor development. Ophthalmological examination revealed in right eye atrophy of the optic nerve, and left eye with exotropia, macular scar and optic nerve aplasia. TORCH profile and serology and PCR for Zika were negative. CONCLUSIONS: Despite the negative serology for Zika, given the history of pregnancy and the pre and post-natal clinical manifestations, diagnosis of embryopathy secondary to Zika infection with optic nerve aplasia, chorioretinal atrophy, macular scar, microcephaly and global neurodevelopmental delay was made.

INTRODUCCIÓN: el Zika es un flavivirus que puede ser transmitido de forma transplacentaria. Las anomalías oculares han sido reportadas en un 70% de los casos y se ha visto que 41.7% de ellas pueden ocurrir en ausencia de microcefalia. Las alteraciones oculares más comunes son: atrofia macular, atrofia óptica y coloboma coriorretiniano. El objetivo de este estudio fue reportar un caso de alteraciones oculares asociadas a Zika, adquirido de forma transplacentaria, a pesar de los resultados negativos para el perfil TORCH y Zika de los análisis de serología y PCR. CASO CLÍNICO: paciente femenina de nueve meses de edad, originaria de Chiapas, México, traída a revisión oftalmológica porque no seguía objetos. Como antecedentes, la paciente tenía madre con diagnóstico de Zika confirmado serológicamente a las nueve semanas de gestación. A la exploración física se encontró microcefalia, piel redundante en cuello, rigidez articular y retraso en el desarrollo psicomotor. A la exploración oftalmológica fueron evidentes atrofia del nervio óptico de ojo derecho, ojo izquierdo con exotropía, cicatriz macular y aplasia del nervio óptico. Tanto el perfil TORCH como la serología y la PCR para Zika fueron negativos. CONCLUSIONES: a pesar de la serología negativa para Zika, dados los antecedentes de la gestación y las manifestaciones clínicas pre y postnatales se integró el diagnóstico de embriopatía secundaria a infección por Zika con aplasia del nervio óptico, atrofia coriorretiniana, cicatriz macular, microcefalia y retraso global del neurodesarrollo.

Maculopatía relacionada con la foseta del nervio óptico / Optic nerve head pit-associated maculopathy

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)

Ophthalmological findings in infants with microcephaly and presumable intra-uterus Zika virus infection.

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.

Ophthalmological findings in infants with microcephaly and presumable intra-uterus Zika virus infection / Achados oftalmológicos em lactentes com microcefalia e infecção presumida pelo vírus Zika

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.

Retinopathy of prematurity as a major cause of severe visual impairment and blindness in children in schools for the blind in Guadalajara city, Mexico.

AIM: To determine the causes of blindness in students attending schools for the blind in Guadalajara city, Mexico and to assess the availability of screening for retinopathy of prematurity (ROP) in local neonatal intensive care units. METHODS: Information on causes of blindness was obtained by interview with parents and teachers, review of records and examination. Causes of visual loss in children with a distance visual acuity of <6/60 (ie, severely visually impaired or blind) were determined and classified according to the WHO's classification system for children. RESULTS: Of 153 children in the two participating schools, 144 were severely visual impaired or blind. Their ages ranged from 4 months to 15 years and 58% were female. ROP was the most common cause of visual loss (34.7%), followed by optic nerve lesions (17.4%) and glaucoma (14.6%). 25/59 (42.3%) children aged 0-4 years were blind from ROP compared with 6/32 (18.8%) children aged 10-15 years. 78% of children blind from ROP had psychomotor delay and less than half (46%) had not received treatment for ROP. All five privately funded neonatal intensive care units in the city regularly screen for ROP compared with only four of the 12 units in the public sector. CONCLUSIONS: ROP is the leading cause of blindness in children in Mexico despite national guidelines being in place. Health policies promoting primary prevention through improved neonatal care need to be implemented. Advocacy is required so that the time ophthalmologists spend screening and treating ROP is included in their job description and hence salaried.

[Morning glory syndrome]. / Síndrome de Morning Glory.

In 1970, Kindier described the morning glory syndrome. This syndrome is a congenital abnormality of the optic nerve with unilateral presence and very low incidence. It is characterized by an enlarged optical disc, deep excavation, presence of traces of radial glia, and arrangement of retinal vascularization. This report describes the fundoscopic image in a patient with morning glory syndrome.

Choroidal melanoma in a patient with congenital bilateral chorioretinal coloboma: a case report of an extremely rare association of ocular comorbities / Melanoma de coróide em um paciente com coloboma congênito coriorretiniano bilateral: relato de caso de uma extremamente rara associação de comorbidades oculares

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.

Choroidal melanoma in a patient with congenital bilateral chorioretinal coloboma: a case report of an extremely rare association of ocular comorbities.

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.

Hipoplasia del nervio óptico y displasia septo-óptica / Optic nerve hypoplasia and septo-optic dysplasia

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.

Hipoplasia del nervio óptico y displasia septo-óptica / Optic nerve hypoplasia and septo-optic dysplasia

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.(AU)

[Optic nerve hypoplasia and septo-optic dysplasia]. / Hipoplasia del nervio óptico y displasia septo-óptica.

The septo-optic dysplasia or De Morsier syndrome is an unusual disorder of the embryonic development. It consists of hypoplasia in one or both optic nerves, midline cerebral malformations and hypothalamic-pituitary dysfunction, which is inconstant. The present work describes the findings of 9 patients with septo-optic dysplasia.

Anoftalmía bilateral por displasia septo-óptica: síndrome de De Morsier / Anophthalmia bilateral caused by septo-optic dysplasia: the De Morsier syndrome

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.

Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature.

OBJECTIVE: To objectively define criteria for intracranial optic nerve (ON) size in ON hypoplasia (ONH) on magnetic resonance imaging (MRI) scans. STUDY DESIGN: Intracranial ON sizes from MRI were compared between 46 children with ONH diagnosed by ophthalmoscopy (group 1, isolated ONH, 8 children; and group 2, ONH associated with abnormalities of the hypothalamic-pituitary axis and septum pellucidum, 38 children) and children with multiple pituitary hormone deficiency (group 3, multiple pituitary hormone deficiency, 14 children), isolated growth hormone deficiency (group 4, isolated growth hormone deficiency, 15 children), and idiopathic short stature (group 5, idiopathic short stature, 10 children). Intracranial ON size was determined by the cross-sectional area, calculated as [pi x (1/2) height x (1/2) width]. RESULTS: Groups 1 and 2 had lower intracranial ON size than did groups 3, 4, and 5 (P < .001). No patients in groups 3 through 5 who had MRI after 12 months of age (when 95% adult size of ONs is attained) had ONs <2.9 mm 2 . Visual acuity correlated significantly with ON size (P < .01). CONCLUSIONS: Magnetic resonance imaging of the ONs with cross-sectional area <2.9 mm 2 in a short child more than 12 months of age, with or without hypothalamic-pituitary axis abnormalities, confirms the clinical diagnosis of ONH.