Incidence of Ocular Pathologies in Italian Children with down Syndrome

Fimiani, Francesco; Iovine, Antonello; Carelli, Roberta; Pansini, M.; Sebastio, Gianfranco; Magli, Adriano

doi:10.1177/112067210701700521

Cited by 68 publications

(62 citation statements)

References 11 publications

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“…Interestingly enough, its etiology remains elusive, although gene polymorphisms, degradative enzymes and proteinase inhibitors have been found to play a significant role in the etiopathogenesis of keratoconus [7,8,9,10,11,12,13,14,15,16]. Keratoconus has been most commonly described as an isolated disorder, but has also been associated with systemic diseases, such as Down's syndrome, mitral valve prolapse, Ehlers-Danlos or Rothmund's syndrome [17,18,19,20,21,22]. Furthermore, an association between keratoconus and tapetoretinal degeneration, retinitis pigmentosa and Leber's congenital amaurosis has been previously reported [23,24,25].…”

Section: Introductionmentioning

confidence: 99%

Assessment of the Macula in Keratoconus: An Optical Coherence Tomography and Multifocal Electroretinography Study

Moschos¹,

Chatziralli²,

Koutsandrea³

et al. 2013

Ophthalmologica

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Purpose: The purpose of our study was to assess the macular thickness and the electrophysiological changes in keratoconic patients without any systemic or ocular disorders. Methods: 64 eyes of 32 keratoconus patients as well as 60 eyes of 30 controls participated in the study. All participants underwent a complete ophthalmological examination, including best-corrected visual acuity (BCVA) assessment, color vision testing, fundus examination, intraocular pressure measurement, central foveal thickness (CFT) measurement by optical coherence tomography (OCT) scan, and multifocal-electroretinogram (mf-ERG) recording. CFT, retinal response density (RRD) and P₁ latency were measured. Results: There was no statistically significant difference between the two groups concerning CFT and P₁ latency in mf-ERG. The RRD in mf-ERG differed significantly between keratoconus patients and controls. Of note, BCVA was positively associated with RRD in keratoconus patients. Conclusion: In some cases of keratoconus, a macular dysfunction not visible ophthalmoscopically may coexist and the low visual acuity could be due not only to the corneal abnormality, but also to the photoreceptor dysfunction. As a result, the preoperative electrophysiological study of patients with keratoconus is crucial to avoid a needless corneal transplantation.

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Section: Introductionmentioning

confidence: 99%

Assessment of the Macula in Keratoconus: An Optical Coherence Tomography and Multifocal Electroretinography Study

Moschos¹,

Chatziralli²,

Koutsandrea³

et al. 2013

Ophthalmologica

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“…Segundo a literatura (10) é grande a incidência de fissura palpebral oblíqua (98%) e o epicanto convencional (61%) em crianças com a Síndrome de Down, o que é também constatado com as crianças deste estudo. Os Endereço para correspondência Silvia Helena Tavares Lorena Rua Flórida,1404 -Brooklin CEP 04561-030 -São Paulo (SP), Brasil Fone:(11) 5507-2705 E-mail: slorena1990@hotmail.com achados de blefarite em 42,85% das crianças examinadas corrobora com a literatura que mostra incidência em torno de 30%.…”

Section: Discussionunclassified

“…(8) O vício refracional mais frequente, neste trabalho, foi o astigmatismo com 22,85%, seguido da hipermetropia com 20% e miopia com 14,28%, correspondendo com a literatura. (8) Segundo a literatura (6,7,10) , os vasos supranumerários nas arcadas são patognomônico desta síndrome, o que condiz com os achados no mapeamento de retina das crianças deste trabalho.…”

Section: Discussionunclassified

“…A incidência de nistagmo na literatura (10) corresponde a 6%, outros estudos (8) apontam 18%. Neste presente estudo, a incidência de nistagmo correspondeu a 2,8%, muito abaixo da porcentagem descrita na literatura devido ao menor número de indivíduos estudados.…”

Section: Discussionunclassified

“…(6)(7)(8)(9) As alterações oftalmológicas encontradas na Síndrome de Down por ordem de frequência são: fendas palpebrais estreitas e oblíquas, epicanto, ametropias (alta miopia), anomalias de íris (manchas de Brushfield), estrabismo, blefarite, obstrução das vias lacrimais excretoras, alterações retinianas, ambliopia, nistagmo, catarata, ceratocone, eversão congênita das pálpebras superiores, ectrópio ou entrópio das pálpebras, euribléfaro. (8)(9)(10)(11)(12)(13)(14) O objetivo do projeto de pesquisa é determinar a incidência das alterações oftalmológicas de crianças com a Síndrome de Down, atendidas no Ambulatório de Especialidades Jardim Peri-Peri, no período de A inspeção ocular foi realizada com a finalidade de diagnosticar: estrabismo, as más posições palpebrais (ectrópio, entrópio) e dacriocistite crônica.…”

Section: Introductionunclassified

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Síndrome de Down: epidemiologia e alterações oftalmológicas

Lorena¹

2012

Rev. bras.oftalmol.

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Purpose:The research project goal is to determine the incidence of ophthalmologic changes in children with Down syndrome who were attended in Peri-Peri Health Center, from july 07, 2004 to october 14, 2009. Methods: This is an observational retrospective study of 35 children medical records with Down's Syndrome who were attended in Peri-Peri Health Center. The patients were submitted to ophthalmologic exams including: ocular inspection; retinoscopy; biomicroscopy; indirect ophthalmoscopy; fluorescein disappearance test; observation test of fluorescein in the oropharynx. Results: The children of this study were examined since 2 months of age. The ophthalmologic changes found in the 35 children with Down Syndrome was: oblique eyelid in 100%, epicanto in 70%, supernumerary vessels in the arcades in the retina exam in 100%, Brushfield spot in 48.57%, blefarity in 42.85%, congenital lacrimal obstruction in 25.71%, miopy in 14.28%, astigmatismy in 22.28%, esotropia in 11.42%, exotropia in 5.71%, nystagmus in 2.85%, ectropion in 5.71% and congenital cataract in 2.85%. Conclusion: This study found a lot of ophthalmologic diseases in children with Down's syndrome: blefarity, congenital nasolacrimal duct obstruction, etc. Therefore the follow-up of these children is very relevant.

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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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Incidence of Ocular Pathologies in Italian Children with down Syndrome

Cited by 68 publications

References 11 publications

Assessment of the Macula in Keratoconus: An Optical Coherence Tomography and Multifocal Electroretinography Study

Assessment of the Macula in Keratoconus: An Optical Coherence Tomography and Multifocal Electroretinography Study

Síndrome de Down: epidemiologia e alterações oftalmológicas

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

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