Retinal Vessels in Down's Syndrome

Williams, Erik J.; McCormick, Andrew Q.; Tischler, Bluma

doi:10.1001/archopht.1973.01000040271001

Cited by 34 publications

(19 citation statements)

References 7 publications

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“…At ophthalmoscopy, tilted (dysplastic) optic nerve heads were evident in 2 of our study patients, both with significant myopia. Different forms of optic nerve dysplasia have been reported in Down syndrome, with the most common characterized by a rosy coloration 52 and an increase in the number of vessels crossing the margin, 38 Retinal detachment also has been described 42,53 and may be related to the self-abusive behavior seen in some persons with Down syndrome. Congenital heart disease was diagnosed in 40% of our study patients, comparable to the 39% rate in a study of patients with Down syndrome from the northern Mediterranean region of Egypt (Alexandria, Lower Egypt).…”

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Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt

Afifi¹,

Azeem²,

El-Bassyouni³

et al. 2013

JAMA Ophthalmol

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IMPORTANCEThe study establishes the importance of genetic background for the expression of Down syndrome phenotype.OBJECTIVE To define the ocular manifestations of Down syndrome in infants and children in Cairo, Egypt, a historically isolated region, and compare them with systemic features and with findings in other geographic groups. DESIGN AND PARTICIPANTSWe prospectively studied the ocular status and systemic features of 90 infants and children with Down syndrome and monitored all patients for 3 years. The complete ophthalmic examinations were performed along with ultrasonography, if media opacities were evident. Thyroid and cardiac status were assessed. An extensive literature search for comparison was performed.SETTING Outpatient clinical genetics department at the National Research Centre in Cairo, Egypt. MAIN OUTCOMES AND MEASURESOcular and systemic manifestations of Down syndrome in infants and children in Cairo, and comparison of these features with patients with this anomaly from other geographic regions and ethnic populations.RESULTS Fifty-two infants or children (58%) had at least 1 abnormal ocular finding identified at the first visit. Significant refractive errors (in 37 [41%] patients) were the most common. Nasolacrimal duct obstruction, blepharoconjuctivitis, or conjunctivitis was found in 18 (20%), strabismus in 13 (14%), cataract in 5 (6%), nystagmus in 3 (3%), and optic nerve dysplasia in 2 (2%). Brushfield spots were not found. Additional ocular features developed over time. Thirty-six patients (40%) had congenital heart defects, and many (31 [86%]) had associated ocular disorders; a statistically significant correlation with myopia was established. Chromosomal translocations were high. The phenotype in Cairo was distinct.CONCLUSIONS AND RELEVANCE More than half of infants and children with Down syndrome in Cairo had ophthalmic abnormalities; myopia was correlated with congenital heart defects. Comparison of the specific ocular features in our population with those in previous worldwide studies shows differences that may be related to overexpression or polymorphisms of key, modifying genes or other mutations in this historically isolated region along the Nile River. Down syndrome is more common in the highly consanguineous and multiparous Middle Eastern populations, and our Cairo findings underscore regional differences.

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Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt

Afifi¹,

Azeem²,

El-Bassyouni³

et al. 2013

JAMA Ophthalmol

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“…Cerca de 40% das crianças com SD nascem com cardiopatia congênita. Em estudos da microvasculatura, detectaram-se alterações na morfologia dos capilares ungueais 9 , aumento significativo no número de ramificações precoces dos vasos retinianos 10 e resistência vascular pulmonar elevada 11 . Estas anomalias descritas no coração e capilares ungueais na SD, poderiam também estar presentes na circulação cerebral 4,5 .…”

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Síndrome de Down e Moyamoya: estudo através de metanálise

Junqueira

Moura-Ribeiro

2002

Arq. Neuro-Psiquiatr.

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RESUMO -Apresentamos o estudo clínico-epidemiológico de dois pacientes e metanálise (período 1977-2000) sobre a comorbidade entre síndrome de Down (SD) e síndrome de "moyamoya" (SMM). Entre os 42 pacientes catalogados no presente estudo, a metanálise permitiu verificar: maior número de publicações de pesquisadores do Japão e Estados Unidos, seguidos pelo Brasil e Itália; predomínio do acidente vascular cerebral (AVC) em lactentes e pré-escolares; sintomatologia inaugural, hemiparesia (78,6%), distúrbio da fala (26,2%); predomínio de infarto isquêmico (76,2%); episódios isquêmicos recorrentes (62%); comprometimento bilateral (83,3%). Esta análise permitiu concluir que, na investigação clínico-neurológica de pacientes com SD e episódios de hemiparesia aguda, a SMM deve ser incluída como diagnóstico mais provável . PALAVRAS-CHAVE: doença cerebrovascular, síndrome de Down, moyamoya. Moyamoya and Down syndrome: study conducted by meta-analysisABSTRACT -We present a clinic-epidemiological study of two patients and meta-analysis (period 1977-2000 ) of the co-morbidity of the Down syndrome (DS) and moyamoya syndrome (MMS). Among the 42 patients listed in this survey, meta-analysis permitted to find the highest number of publications by researchers from Japan and United States, followed by Brazil and Italy; prevalence of cerebrovascular disease in suckling and pre school children; first symptomatology was hemiparesis (78.6%), speech disorders (26.2%); ischemic infarction (76.2%); recurring ischemic episodes (62%); bilateral impairment (83.3%). This analysis led to the conclusion that in the clinic-neurological investigation of DS patients with acute hemiparesis episodes, MMS should be included as the most probable diagnosis.KEY WORDS: cerebrovascular diseases, Down syndrome, moyamoya syndrome. Dr. Paulo Alves Junqueira -Rua Mário Borin 500 -13209-030 Jundiaí SP -Brasil. E-mail: ppaj@terra.com.brPacientes com diagnóstico de síndrome de Down (SD) e anormalidades cerebrovasculares semelhantes às detectadas na doença "moyamoya" têm sido sistematicamente relatadas na literatura nos últimos 20 anos. Fukushima e col.¹ encontraram um caso de síndrome de "moyamoya" (SMM) dentre 532 pacientes com SD e Nishimura e col.² um entre 400. Segundo Kawai³ estes dados são três vezes superiores à incidência da doença "moyamoya" na população geral. Em 1977, Schrager e col. 4 publicaram o primeiro caso desta associação, relatando o estudo de menina de três anos que desenvolveu hemiplegia aguda acompanhada de cegueira cortical. É importante realçar que, no Brasil, Schultz e col.5 , em 1981, documentaram o segundo caso da literatura, tecendo considerações sobre a etiopatogenia desta associação.Atualmente, no consenso para o diagnóstico da doença "moyamoya", indicados pelo Comitê de Pesquisa do Japão (1988) é necessário o preenchimento dos seguintes critérios: 1-Estenose ou oclusão da artéria carótida interna ou das artérias cerebrais anterior e média; 2-Rede vascular anormal, identificada durante a fase arterial da angiografia; 3-Comprometi...

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“…A markedly increased number of retinal blood vessels at the level of the optic disc is often present in Down syndrome 1. Additional characteristics of trisomy 21 include a low incidence of proliferative changes in those with longstanding diabetic retinopathy2 and a markedly low incidence of solid cancerous growth 3.…”

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