RESUMEN

AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.

Asunto(s)

Aniridia , Opacidad de la Córnea , Gemelos Monocigóticos , Síndrome WAGR , Tumor de Wilms , Humanos , Femenino , Gemelos Monocigóticos/genética , Síndrome WAGR/genética , Aniridia/genética , Aniridia/complicaciones , Tumor de Wilms/genética , Tumor de Wilms/complicaciones , Lactante , Opacidad de la Córnea/genética , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Enfermedades en Gemelos/genética , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/complicaciones

RESUMEN

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

Asunto(s)

Coartación Aórtica , Anomalías del Ojo , Síndromes Neurocutáneos , Humanos , Lactante , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Síndromes Neurocutáneos/complicaciones , Anomalías del Ojo/complicaciones , Coartación Aórtica/complicaciones , Calidad de Vida , Estudios Transversales , Cefalea

RESUMEN

PURPOSE: The study aimed to describe anatomic and visual outcomes associated with perfluoropropane intravitreal injection followed by laser treatment for macular retinal detachment secondary to optic disc pit. METHODS: A single-center, retrospective study. Medical records of all patients treated at a tertiary retina referral center were evaluated between 2011 and 2018 for congenital optic disc pit-associated macular detachment with 0.3 ml 100% perfluoropropane intravitreal injection followed by retinal laser photocoagulation along the temporal optic disc margin as the initial treatment. RESULTS: Six patients with optic disc pit-associated macular detachment were identified, with postoperative follow-up ranging from 13 to 52 months (mean: 28 months). Spectral domain optical coherence tomography (SD-OCT) showed complete fluid resolution without recurrence in five of the six cases. Four cases showed complete reabsorption after Intravitreal perfluoropropane plus laser, one patient needed an extra procedure (pars plana vitrectomy with inner limiting membrane peeling and pedicle flap inversion over the temporal optic disc margin) to achieve complete fluid reabsorption, and one patient had persistent intraretinal fluid and denied additional surgeries. The time between the initial procedure and total fluid reabsorption varied from 6.5 to 41 months (mean: 19.5 months). Best-corrected visual acuity improved after surgery on the last follow-up visit in all cases. CONCLUSION: 100% perfluoropropane intravitreal injection followed by photocoagulation along temporal optic disc margin was associated with anatomic and visual improvement in most cases, representing an alternative treatment approach for optic disc pit-associated macular detachment.

Asunto(s)

Anomalías del Ojo , Desprendimiento de Retina , Humanos , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Estudios Retrospectivos , Estudios de Seguimiento , Anomalías del Ojo/complicaciones , Vitrectomía/métodos , Tomografía de Coherencia Óptica , Rayos Láser

RESUMEN

Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. It was first described by Delleman and Oorthuys in 1981, and since then, very few other cases have been reported. We report the case of a 13-month-old boy, referred to an ophthalmological tertiary service for investigation of a microglobe with a cystic retrobulbar mass on translucency test. MRI revealed a left microphthalmia, with extensive retrobulbar cystic lesions occupying the remaining orbit and protruding anteriorly the microglobe. Cerebral findings included polymicrogyria, subependymal nodular heterotopia at the level of the left occipital horn of the lateral ventricle, and an importantly enlarged mesencephalic tectum observed in association with an absent cerebellar vermis. The ensemble of malformations met the criteria for definite OCCS. Being a tremendously rare syndrome, OCCS will always represent a diagnostic challenge. However, its emblematic cutaneous manifestations might be an important part of the road map leading to its correct interpretation. Thus, when absent, diagnosis can be harder than usual, and, on these cases, neurologists, ophthalmologists, and radiologists play a crucial role.

Asunto(s)

Anomalías Múltiples , Quistes del Sistema Nervioso Central , Anomalías del Ojo , Anomalías Cutáneas , Quistes del Sistema Nervioso Central/patología , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Dedos/anomalías , Humanos , Lactante , Masculino , Anomalías Cutáneas/complicaciones , Anomalías Cutáneas/diagnóstico por imagen

RESUMEN

OBJECTIVE: To describe the main prenatal sonographic and magnetic resonance imaging (MRI) features leading to the diagnosis of Posterior fossa malformations, Hemangiomas of the face, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities (PHACE) syndrome. The literature was also reviewed in order to determine the main neuroimaging features of fetuses with this condition. RESULTS: The index case was referred at 24 weeks' gestation with the probable diagnosis of Dandy-Walker malformation. Prenatal sonographic examination revealed hypoplasia of the left cerebellar hemisphere, hypoplasia of the cerebellar vermis, and enlarged cisterna magna (the "tilted telephone receiver sign"). Fetal MRI at 30 weeks confirmed the findings and also revealed an ipsilateral retrocerebellar cyst communicating with the asymmetrical dilated fourth ventricle, upward displacement of the left cerebellar hemisphere, and elevation of the ipsilateral tentorium. Postnatally, a large left facial segmental hemangioma as well as ipsilateral vascular intracranial malformations were identified, confirming the diagnosis of PHACE syndrome. A review of the literature revealed 11 reports describing 22 fetuses with prenatal imaging studies, including ours, confirming the high prevalence of specific posterior fossa abnormalities associated with PHACE syndrome. CONCLUSION: Our case and those reported in the literature support the observation that PHACE syndrome presents with characteristic features affecting the posterior fossa, which can be identified through prenatal sonography and fetal MRI.

Asunto(s)

Coartación Aórtica , Anomalías del Ojo , Hemangioma , Síndromes Neurocutáneos , Coartación Aórtica/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/diagnóstico por imagen , Neuroimagen/métodos , Embarazo

Asunto(s)

Cerebelo/anomalías , Córnea/patología , Enfermedades de la Córnea/diagnóstico , Anomalías del Ojo/complicaciones , Enfermedades Renales Quísticas/complicaciones , Retina/anomalías , Anomalías Múltiples/diagnóstico , Adolescente , Enfermedades de la Córnea/etiología , Anomalías del Ojo/diagnóstico , Humanos , Enfermedades Renales Quísticas/diagnóstico , Masculino

RESUMEN

Down syndrome is the most common chromosomal disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of visual disorders that, if left untreated, can negatively affect child development. The aim of this study was to determine the prevalence of ophthalmological findings among patients who attended an outpatient clinic for patients with Down syndrome in southern Brazil between 2005 and 2016. A cross-sectional study including 1,207 patients medical records were done, which 492 (40.8%) had some ophthalmological disorder. These data were subjected to descriptive analysis using Statistica software. Among the 492 patients with any ophthalmological disease, the need for glasses was found in 434 (36%) patients, keratoconus in 254 (42.1%), congenital cataract in 27 (15.1%), nasolacrimal duct obstruction in 25 (2.0%), strabismus in 22 (1.9%), nystagmus in four (0.3%), and juvenile cataract in two (0.2%). Two young adults with keratoconus underwent corneal transplantation. Although the prevalence of an ophthalmological disease among the present sample (40.8%) was lower than described in the current literature, it still reinforced the importance of routine and early evaluations in infants. These should begin at 6 months of age and be repeated half-year until 2 years old, annually until 7 years old, biennial in adolescents, and triennial in adults and elderly. Our findings of a high frequency of keratoconus support a detailed corneal study in such patients for early detection and treatment.

Asunto(s)

Síndrome de Down/diagnóstico , Oftalmopatías/diagnóstico , Obstrucción del Conducto Lagrimal/diagnóstico , Adolescente , Adulto , Brasil/epidemiología , Catarata/complicaciones , Niño , Preescolar , Estudios Transversales , Síndrome de Down/complicaciones , Anomalías del Ojo/complicaciones , Oftalmopatías/complicaciones , Femenino , Humanos , Lactante , Recién Nacido , Queratocono/complicaciones , Obstrucción del Conducto Lagrimal/complicaciones , Masculino , Nistagmo Congénito/complicaciones , Estudios Retrospectivos , Programas Informáticos , Estrabismo/complicaciones , Adulto Joven

RESUMEN

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.

Asunto(s)

Anomalías Múltiples , Coartación Aórtica/complicaciones , Anomalías del Ojo/complicaciones , Neoplasias del Ojo/complicaciones , Hemangioma , Síndromes Neurocutáneos/complicaciones , Anomalías Múltiples/diagnóstico , Anomalías del Ojo/diagnóstico , Neoplasias del Ojo/diagnóstico , Hemangioma/complicaciones , Hemangioma/diagnóstico , Humanos , Lactante

RESUMEN

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.

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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".

Asunto(s)

Humanos , Lactante , Coartación Aórtica/complicaciones , Anomalías Múltiples , Anomalías del Ojo/complicaciones , Síndromes Neurocutáneos/complicaciones , Neoplasias del Ojo/complicaciones , Hemangioma , Anomalías Múltiples/diagnóstico , Anomalías del Ojo/diagnóstico , Neoplasias del Ojo/diagnóstico , Hemangioma/complicaciones , Hemangioma/diagnóstico

RESUMEN

ABSTRACT Purpose: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. Methods: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. Results: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. Conclusion: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

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RESUMO Objetivo: Avaliar as causas e o controle das opa cidades corneanas congênitas diagnosticadas em um centro oftal mológico de atendimento terciário e comparar os dados com um estudo anterior realizado na mesma instituição. Métodos: Prontuários médicos informatizados de todos os pacientes com opacidade corneana congênita diagnosticada no Serviço de Córnea no Wills Eye Hospital (Filadélfia, PA) entre 1º de ja neiro de 2007 e 31 de dezembro de 2015 foram revisados retrospectivamente. Crianças com 12 anos ou menos na primeira consulta foram incluídas no estudo. A demografia dos pacientes, o diagnóstico ocular, a lateralidade, as anormalidades oculares associadas, outras cirurgias oculares realizadas antes ou após a primeira consulta e o tratamento foram extraídos dos prontuários médicos. Resultados: Um total de 77 olhos de 56 pacientes foi examinado. A idade média de apresentação foi de 32,8 ± 44,2 meses, com um tempo médio de acompanhamento de 26,7 ± 30,1 meses. O diagnóstico mais frequente foi anomalia de Peters (53,2%), seguido por dermóide límbico (13,0%), aniridia com glaucoma e microftalmia (6,5%), esclerocórnea e glaucoma congênito (5,2%), idiopático (3,9%), síndrome de Axenfeld-Rieger e síndrome de Hurler (2,6%) e microcórnea (1,3%). Ceratoplastia primária foi realizada em 26 olhos, com desfecho de córnea clara de 76,0% durante o acompanhamento. Conclusão: A anomalia de Peters é a causa mais comum de opacidade corneana congênita encontrada em nossa instituição. A ceratoplastia penetrante é a escolha mais frequente de cirurgia corneana para o tratamento de opacidades corneanas congênitas. Intervenções adicionais durante a ceratoplastia penetrante foram moderadamente correlacionadas positivamente com a falha do enxerto. Este estudo também mostra as taxas de algumas etiologias do que mudou ao longo faz últimas décadas em nosso serviço de córnea de atendimento terciário. Embora a anomalia de Peters continue a ser a causa mais comum das opacidades congênitas da córnea, sua taxa parece estar aumentando na última década. Opacidades congênitas da córnea devido a trauma no nascimento, que é uma das causas evitáveis, foram observadas em um estudo anterior em nossa clínica; no entanto, nenhum caso novo foi observado neste estudo.

Asunto(s)

Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Niño , Opacidad de la Córnea/cirugía , Opacidad de la Córnea/congénito , Centros de Atención Terciaria , Enfermedades Hereditarias del Ojo/complicaciones , Anomalías del Ojo/complicaciones , Glaucoma/complicaciones , Registros Médicos , Estudios Retrospectivos , Factores de Riesgo , Queratoplastia Penetrante/métodos , Resultado del Tratamiento , Estadísticas no Paramétricas , Córnea/anomalías , Córnea/patología , Enfermedades de la Córnea/complicaciones , Opacidad de la Córnea/complicaciones , Segmento Anterior del Ojo/anomalías

RESUMEN

PURPOSE: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution. METHODS: Computerized medical records in all patients with congenital corneal opacities diagnosed in the Cornea Service at Wills Eye Hospital (Philadelphia, PA) between January 1, 2007, and December 31, 2015, were retrospectively reviewed. Children aged 12 years and younger at the first visit were included in the study. Patients' demographics, ocular diagnosis, laterality, associated ocular abnormalities, other ocular surgery performed prior or subsequent to the first visit, and their treatment were extracted from the medical records. RESULTS: A total of 77 eyes in 56 patients were examined. The mean age at presentation was 32.8 ± 44.2 months, with the mean follow-up period of 26.7 ± 30.1 months. The most frequent diagnosis was Peters anomaly (53.2%), followed by limbal dermoid (13.0%), aniridia with glaucoma and microphthalmos (6.5%), sclerocornea and congenital glaucoma (5.2%), idiopathic (3.9%), Axenfeld-Rieger anomaly and Hurler syndrome (2.6%), and microcornea (1.3%). Primary keratoplasty was performed in 26 eyes, with the outcome rate in the clear cornea of 76.0% during the follow-up. CONCLUSION: Peters anomaly is the most common cause of congenital corneal opacities encountered at our institution. Penetrating keratoplasty is the most frequent choice of corneal surgery to treat congenital corneal opacities. Additional interventions during penetrating keratoplasty were moderately positively correlated with graft failure. This study also shows the rates of some etiologies of that changed over the recent decades in our tertiary care Cornea Service. Although Peters anomaly remains the most common presenting reason for congenital corneal opacities, its rate appears to be increasing over the recent decade. Congenital corneal opacities due to birth trauma, which is one of the preventable causes, were observed in a previous study in our clinic; however, no new cases were noted in this study.

Asunto(s)

Opacidad de la Córnea/congénito , Opacidad de la Córnea/cirugía , Centros de Atención Terciaria , Segmento Anterior del Ojo/anomalías , Niño , Preescolar , Córnea/anomalías , Córnea/patología , Enfermedades de la Córnea/complicaciones , Opacidad de la Córnea/complicaciones , Anomalías del Ojo/complicaciones , Enfermedades Hereditarias del Ojo/complicaciones , Femenino , Glaucoma/complicaciones , Humanos , Lactante , Recién Nacido , Queratoplastia Penetrante/métodos , Masculino , Registros Médicos , Estudios Retrospectivos , Factores de Riesgo , Estadísticas no Paramétricas , Resultado del Tratamiento

RESUMEN

ABSTRACT Optic disc pit is a rare congenital anomaly that can cause serous macular detachment. It has no universally accepted single treatment. Recently, several investigators have performed new procedures to directly seal the pit. Herein, we report a case showing a promising method for optic pit maculopathy surgical treatment. We created an inverted internal limiting membrane flap and fold it over the pit to promote barrier in order to stop further fluid accumulation. Gradual absorption of subretinal fluid was observed over 12 months of follow-up. Optical coherence tomography can demonstrate internal limiting membrane folded over the pit and progressive subretinal fluid resolution. This technique resulted in a satisfactory anatomic outcome with good functional improvement in the best-corrected visual acuity.

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RESUMO A fosseta do disco óptico é uma rara anomalia con gênita que pode causar descolamento de retina seroso na mácula. Não há um tratamento cirúrgico padrão universalmente aceito. Recentemente, cirurgiões têm realizado procedimentos novos que visam selar o buraco diretamente. Esse caso clínico mostra um método promissor para o tratamento cirúrgico da maculopatia causada pela fosseta do disco. Optamos por criar um flap invertido com a membrana limitante interna, dobrando-o sobre a fosseta para promover uma barreira, impedindo o acúmulo de fluido. A absorção gradual do líquido subretiniano foi observada ao longo de 12 meses de acompanhamento. Imagens de tomografia de coerência óptica podem demonstrar a membrana limitante interna dobrada sobre a fosseta e a resolução progressiva do fluido subretiniano. Esta técnica resultou em um resultado anatômico satisfatório com boa melhora funcional na acuidade visual.

Asunto(s)

Humanos , Femenino , Adulto , Vitrectomía/métodos , Desprendimiento de Retina/cirugía , Anomalías del Ojo/cirugía , Tomografía de Coherencia Óptica/métodos , Disco Óptico/anomalías , Enfermedades de la Retina , Desprendimiento de Retina/etiología , Agudeza Visual , Anomalías del Ojo/complicaciones , Líquido Subretiniano , Degeneración Macular/complicaciones

RESUMEN

Optic disc pit is a rare congenital anomaly that can cause serous macular detachment. It has no universally accepted single treatment. Recently, several investigators have performed new procedures to directly seal the pit. Herein, we report a case showing a promising method for optic pit maculopathy surgical treatment. We created an inverted internal limiting membrane flap and fold it over the pit to promote barrier in order to stop further fluid accumulation. Gradual absorption of subretinal fluid was observed over 12 months of follow-up. Optical coherence tomography can demonstrate internal limiting membrane folded over the pit and progressive subretinal fluid resolution. This technique resulted in a satisfactory anatomic outcome with good functional improvement in the best-corrected visual acuity.

Asunto(s)

Anomalías del Ojo/cirugía , Desprendimiento de Retina/cirugía , Tomografía de Coherencia Óptica/métodos , Vitrectomía/métodos , Adulto , Anomalías del Ojo/complicaciones , Femenino , Humanos , Degeneración Macular/complicaciones , Disco Óptico/anomalías , Desprendimiento de Retina/etiología , Enfermedades de la Retina , Líquido Subretiniano , Agudeza Visual

Asunto(s)

Coartación Aórtica/complicaciones , Anomalías del Ojo/complicaciones , Pérdida Auditiva Conductiva/etiología , Síndromes Neurocutáneos/complicaciones , Angiomatosis/patología , Coartación Aórtica/diagnóstico , Coartación Aórtica/patología , Preescolar , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/patología , Femenino , Pérdida Auditiva Conductiva/diagnóstico , Hemangioma/patología , Humanos , Síndromes Neurocutáneos/diagnóstico , Síndromes Neurocutáneos/patología , Otoscopía , Síndrome

Asunto(s)

Humanos , Femenino , Preescolar , Niño , Coartación Aórtica/complicaciones , Anomalías del Ojo/complicaciones , Síndromes Neurocutáneos/complicaciones , Pérdida Auditiva Conductiva/etiología , Coartación Aórtica/diagnóstico , Coartación Aórtica/patología , Síndrome , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/patología , Síndromes Neurocutáneos/diagnóstico , Síndromes Neurocutáneos/patología , Otoscopía , Pérdida Auditiva Conductiva/diagnóstico , Hemangioma/patología , Angiomatosis/patología

RESUMEN

PURPOSE: To report a cohort with optic disk pit maculopathy (ODPM) presenting with neurosensory macular detachment that were initially misdiagnosed and mistreated; and to describe structural features on spectral domain optical coherence tomography in misdiagnosed and all other consecutive cases of ODPM. METHODS: Multicenter international retrospective cohort study. PARTICIPANTS: 59 eyes from 59 patients with ODPM. MAIN OUTCOME MEASURES: 1) Proportion of patients with ODPM initially misdiagnosed, inaccurate diagnosis and treatment. 2) Morphologic features on spectral domain optical coherence tomography: other causes of subretinal and/or intraretinal fluid, inner/outer retinoschisis, communication with optic disk pit, and retinal pigment epithelium alterations. 3) Visual and anatomical outcomes 6 months after proper treatment. RESULTS: Fifteen patients (25.4%) with ODPM were correctly diagnosed initially and those were significantly younger than misdiagnosed cases (age 33.8 ± 15.2 vs. 58.7 ± 15.8 years, P < 0.0001). Forty of forty-four misdiagnosed eyes (90.9%) were treated for their presumed diagnosis before referral. Eyes with initial misdiagnosis had significantly more outer retinoschisis at baseline (88.4 vs. 40.0%, P = 0.0002) and more retinal pigment epithelium alterations (90.0 vs. 27.3%, P < 0.0001) 6 months after proper treatment. CONCLUSION: Optic disk pit maculopathy is an underdiagnosed entity and can mimic other causes for subretinal fluid. Awareness and identification of pertinent spectral domain optical coherence tomography features can help avoid inappropriate and delayed treatment.

Asunto(s)

Anomalías del Ojo/patología , Mácula Lútea/patología , Degeneración Macular/diagnóstico , Disco Óptico/anomalías , Tomografía de Coherencia Óptica/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Anomalías del Ojo/complicaciones , Femenino , Humanos , Degeneración Macular/etiología , Masculino , Persona de Mediana Edad , Disco Óptico/patología , Reproducibilidad de los Resultados , Estudios Retrospectivos , Adulto Joven

RESUMEN

OBJECTIVE: To characterize the risk for ocular complications in patients with PHACE syndrome. STUDY DESIGN: This study included consecutive patients with PHACE syndrome who were seen at Lurie Children's Hospital of Chicago from January 2000 through May 2017. A complete ophthalmic examination was performed in all patients, with extra attention for findings typically associated with PHACE syndrome. RESULTS: Thirty patients (67% female, median age of onset 0.08 months) were included: 38 (93%) demonstrated a segmental infantile hemangioma distribution. Twenty-one (70%) cases had a periocular involvement, and 47% had an infantile hemangioma with a deep component. Among 21 patients with periocular distribution, 9 had ocular complications secondary to the periocular location (mainly ptosis, nasolacrimal duct obstruction, and refractive errors), and one had an ocular complication specifically associated with PHACE syndrome (Horner syndrome). None of the patients without periocular distribution had an ocular complication. CONCLUSIONS: In patients with PHACE syndrome who have a periocular infantile hemangioma, a complete eye examination is recommended. Although specific ocular anomalies related to PHACE syndrome are rare, serious ocular complications secondary to the location of the hemangioma may be present. Eye examination in patients with PHACE syndrome without a periocular infantile hemangioma distribution is likely of low yield.

Asunto(s)

Coartación Aórtica/complicaciones , Anomalías del Ojo/etiología , Síndromes Neurocutáneos/complicaciones , Chicago , Preescolar , Ojo/patología , Anomalías del Ojo/complicaciones , Anomalías del Ojo/epidemiología , Femenino , Hemangioma/complicaciones , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Medición de Riesgo/métodos

RESUMEN

Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.

Asunto(s)

Coartación Aórtica/diagnóstico , Anomalías del Ojo/diagnóstico , Neoplasias Faciales/diagnóstico , Hemangioma/diagnóstico , Síndromes Neurocutáneos/diagnóstico , Coartación Aórtica/complicaciones , Coartación Aórtica/diagnóstico por imagen , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Cara/diagnóstico por imagen , Neoplasias Faciales/tratamiento farmacológico , Hemangioma/tratamiento farmacológico , Humanos , Lactante , Imagen por Resonancia Magnética , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/diagnóstico por imagen , Propranolol/uso terapéutico , Accidente Cerebrovascular/etiología

RESUMEN

Abstract: Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.

Asunto(s)

Humanos , Coartación Aórtica/diagnóstico , Neoplasias Faciales/diagnóstico , Anomalías del Ojo/diagnóstico , Síndromes Neurocutáneos/diagnóstico , Hemangioma/diagnóstico , Coartación Aórtica/complicaciones , Coartación Aórtica/diagnóstico por imagen , Propranolol/uso terapéutico , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Neoplasias Faciales/tratamiento farmacológico , Imagen por Resonancia Magnética , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/diagnóstico por imagen , Cara/diagnóstico por imagen , Hemangioma/tratamiento farmacológico , Lactante

RESUMEN

Resumo Nós descrevemos uma rara associação entre estafiloma peripapilar congênito e drusa de disco óptico em uma mulher de 47 anos de idade e visão normal.

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Abstract We described a rare association between peripapillary staphyloma and optic disk drusen in a woman with 47 years old and normal vision.

Asunto(s)

Humanos , Femenino , Persona de Mediana Edad , Disco Óptico/anomalías , Drusas del Disco Óptico/etiología , Anomalías del Ojo/complicaciones , Informes de Casos , Angiografía con Fluoresceína , Agudeza Visual , Drusas del Disco Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/complicaciones , Enfermedades del Nervio Óptico/congénito , Ultrasonografía , Pruebas del Campo Visual