Pediatric cataracts: clinical aspects, frequency of strabismus and chronological, etiological, and morphological features

Tartarella, Márcia Beatriz; Britez-Colombi, Glória Fátima; Milhomem, Suane Castro; Lopes, Márcia Cordeiro Emery; Filho, João Borges Fortes

doi:10.5935/0004-2749.20140037

Cited by 33 publications

(28 citation statements)

References 23 publications

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“…In our cohort, strabismus was the most frequently associated ocular finding, which was present in 40% of individuals for whom this information was available (Table ). The frequency of strabismus associated with CCs is variable and ranges from 29% to 72% (France & Frank, ; Merino et al, ; Tartarella, Britez‐Colombi, Milhomem, Emery‐Lopes, & Fortes‐Filho, ). Strabismus in CC cases is mostly because of visual deprivation and is commonest among patients with unilateral CC and aphakia (Lee & Park, ).…”

Section: Discussionmentioning

confidence: 99%

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

Astiazarán

García-Montaño

Sánchez-Moreno³

et al. 2018

American J of Med Genetics Pt A

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Congenital cataract (CC) is a significant cause of childhood blindness worldwide. CC is a genetically heterogeneous disease because mutations in over 40 genes have been demonstrated to cause the disorder and up to 40% of cases arise from single‐gene mutations. Hence, next generation sequencing (NGS) of deoxyribonucleic acid is a suitable approach for CC molecular diagnosis. In this study, we used commercially available inherited disease NGS panels including 50 CC genes for the genetic diagnosis of 11 probands with hereditary CC. Causal variants were recognized in six families. A novel CRYGC variant, p.(Phe6Ser), was identified in two apparently unrelated families. Two additional novel variants in the crystallin genes CRYBB2 (p.[Gly149Asp]) and CRYGA (p.[Arg48Cys]) were also identified. One family carried the novel p.[Gly8_Leu11del] variant in GJA8, while another family exhibited the previously reported c.2826‐9G>A pathogenic change in EPHA2. Our results illustrate the utility of NGS for diagnosing CC in our population, and our results contribute to expand the mutational spectrum with four novel pathogenic variants in known CC genes.

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Section: Discussionmentioning

confidence: 99%

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

Astiazarán

García-Montaño

Sánchez-Moreno³

et al. 2018

American J of Med Genetics Pt A

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“…7,8 Verificou-se um predomí-nio das cataratas bilaterais (64,3%) e entre as cataratas unilaterais a distribuição foi similar para ambos os olhos.…”

Section: Discussionunclassified

“…Estes dados estão de acordo com outros estudos. 2,[7][8][9] As cataratas hereditárias ocorreram em 9,5% dos casos, e o modo de transmissão foi predominantemente autossómico dominante. Na literatura a prevalência de cataratas hereditárias varia entre 6,8-29% dos casos.…”

Section: Discussionunclassified

“…Na literatura a prevalência de cataratas hereditárias varia entre 6,8-29% dos casos. 7,8 Apesar de estarem descritos casos com padrão de herança autossómico recessivo ou ligado ao X, o mais frequentemente observado é o autossómico dominante.…”

Section: Discussionunclassified

“…Estes dados estão em consonância com outros estudos. 13 A morfologia ou a lateralidade das cataratas pediátri-cas podem ser indicativas da sua etiologia, 7 no entanto, no nosso estudo não encontramos diferenças estatisticamente significativas, quando analisadas aquelas variáveis.…”

Section: Discussionunclassified

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Cataratas em Idade Pediátrica: Estudo Retrospetivo de 12 Anos (2004 - 2016)

et al. 2017

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Introduction: Cataracts are a major cause of preventable childhood blindness. Visual prognosis of these patients depends on a prompt therapeutic approach. Understanding pediatric cataracts epidemiology is of great importance for the implementation of programs of primary prevention and early diagnosis.Material and Methods: We reviewed the clinical cases of pediatric cataracts diagnosed in the last 12 years at Hospital Pedro Hispano, in Porto.Results: We identified 42 cases of pediatric cataracts with an equal gender distribution. The mean age at diagnosis was 6 years and 64.3% of patients had bilateral disease. Decreased visual acuity was the commonest presenting sign (36.8%) followed by leucocoria (26.3%). The etiology was unknown in 59.5% of cases and there was a slight predominance of nuclear type cataract (32.5%). Cataract was associated with systemic diseases in 23.8% of cases and with ocular abnormalities in 33.3% of cases. 47.6% of patients were treated surgically. Postoperative complications occurred in 35% of cases and posterior capsular opacification was the most common (25%).Discussion: The report of 42 cases is probably the result of the low prevalence of cataracts in this age. Although the limitations of our study include small sample size, the profile of children with cataracts in our hospital has characteristics relatively similar to those described in the literature.Conclusion: Given the high proportion of idiopathic pediatric cataracts, prevention of the disease remains a challenge worldwide.

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Stereopsis Outcomes in Children Treated for Congenital Cataracts

Birch

O’Connor

2016

Congenital Cataract

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Pediatric cataracts: clinical aspects, frequency of strabismus and chronological, etiological, and morphological features

Cited by 33 publications

References 23 publications

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

Cataratas em Idade Pediátrica: Estudo Retrospetivo de 12 Anos (2004 - 2016)

Stereopsis Outcomes in Children Treated for Congenital Cataracts

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