Postcataract surgery outcome in a series of infants and children with Down syndrome

Gardiner, Clare E; Lanigan, Bernadette; O’Keefe, Michael

doi:10.1136/bjo.2007.134619

Cited by 15 publications

(15 citation statements)

References 22 publications

(33 reference statements)

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“…36 In a large population of infants and children with Down syndrome undergoing cataract surgery, 76% had congenital cataract. 83 As documented in Table 1, the presence of cataract in comparable pediatric age groups ranged from 2% 50 in a large Indian population (aged ≤26 years) to 3% in the United States 32 (aged ≤19 years), 13% in Brazil (aged ≤19 years), 35 and 18% in Scotland 31 ; in the population younger than 5 years, a subset of the heterogeneous Brazilian population studied, 35 the prevalence was 1% compared with 6% in our Cairo patients. Although the genetic background, including modifier genes, is the most likely basis for such differences, examination methods or environmental factors may confound the analyses.…”

mentioning

confidence: 89%

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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mentioning

confidence: 89%

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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“…Distinctive phenotypes of individuals with DS involve short stature, mental retardation, skeletal defects, and oligodontia. Moreover, DS‐affected people have pathological anomalies, such as congenital heart disease , congenital cataracts , immune system defects, neurodegenerative diseases , premature ageing, and haematopoietic disorders, including a higher incidence of childhood leukaemia .…”

Section: Introductionmentioning

confidence: 99%

New insights into the pathobiology of Down syndrome – hyaluronan synthase‐2 overexpression is regulated by collagen VI α2 chain

et al. 2013

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Down syndrome (DS) is a common birth defect characterized by the trisomy of chromosome 21. DS-affected umbilical cords (UCs) of fetuses show altered architecture of the extracellular matrix. Overexpression of the chromosome 21 genes encoding the collagen type VI (COLVI) chains a1 (VI) and a2(VI), COL6A1 and COL6A2, respectively, has also reported to occur in the nuchal skin of DS fetuses. The aim of this study was therefore to evaluate the COLVI content in euploid and DS-affected UCs and human skin fibroblasts, and to investigate the relationships between COL-VI and hyaluronan (HA) and HA synthase-2 (HAS2). We found that the UCs of DS fetuses showed denser staining of COLVI and increased COL6A2 expression at both early and term gestational ages. In vitro expression studies in DS-derived fibroblasts showed similarly increased amounts of a1(VI) and a2(VI) chains at the protein and transcriptional level, supporting the hypothesis of the gene dosage effect. Furthermore, increased levels of HA and HAS2 were also found in DS-derived skin fibroblast cultures. Notably, silencing of COL6A2 in DS-derived cells resulted in downregulation of HAS2, with a simultaneous decrease in secreted HA. Exogenous addition of COLVI to normal fibroblasts did not have any effect on HAS2 expression. In conclusion, UCs and skin fibroblasts in DS show significant increases in COLVI and HA; the overexpression of COL6A2 in DS tissue and cells is closely related to the increased expression of HAS2. These data may explain the DS phenotypes and their effects in organ tissue maturation.

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“…The occurrence of early cataract has been attributed to multiple factors such as susceptibility to oxidative stress23 and accumulation of amyloid precursor protein and amyloid-β peptides24 25 in the lens. Previous studies have reported the management and outcomes of childhood cataract in Down's syndrome 9 10. In the present study, we evaluated the outcomes of cataract surgery in adult patients with Down's syndrome.…”

Section: Discussionmentioning

confidence: 98%

“…Previous studies have reported the occurrence of cataracts early in life in patients with Down's syndrome 9. Nevertheless, the outcomes of cataract surgery have been reported to be good in children with Down's syndrome 10. In the present study, we evaluated the surgical and visual outcomes of cataract surgery in adults with Down's syndrome.…”

Section: Introductionmentioning

confidence: 93%

Cataract surgery outcomes in adult patients with Down's syndrome: Table 1

Chan

Lam

et al. 2014

Br J Ophthalmol

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Postcataract surgery outcome in a series of infants and children with Down syndrome

Cited by 15 publications

References 22 publications

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

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

New insights into the pathobiology of Down syndrome – hyaluronan synthase‐2 overexpression is regulated by collagen VI α2 chain

Cataract surgery outcomes in adult patients with Down's syndrome: Table 1

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