Pediatric Cataract

Mickler, Casey; Boden, John; Trivedi, Rupal H.; Wilson, M. Edward

doi:10.3928/00904481-20110117-07

Cited by 6 publications

(8 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Typically, inherited cataract has an early onset (<40 years) and most cases are diagnosed at birth (congenital), during infancy, or during childhood accounting for 10%-25% of all pediatric cataract cases [2]. Congenital and infantile forms of cataract are a clinically important cause of impaired visual development that accounts for 3%-39% of childhood blindness, worldwide [4]. Despite advances in surgical treatment, pediatric cataract poses a long-term risk of postoperative complications including secondary glaucoma, nystagmus, and retinal detachment [5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

et al. 2014

View full text Add to dashboard Cite

Background: Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenotype-genotype correlation rendering both clinical classification and molecular diagnosis challenging. Here we have utilized trio-based whole exome sequencing to discover mutations in candidate genes underlying autosomal dominant cataract segregating in three nuclear families.

show abstract

Section: Introductionmentioning

confidence: 99%

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

et al. 2014

View full text Add to dashboard Cite

show abstract

“…1,2 The incidence of pediatric cataracts ranges from 1.8-3.6/10.000 per year and about 12-46% of all pediatric cataracts are caused by ocular trauma. 3 In the United States and other developed countries, the incidence rate of ocular trauma was around 1 to 10 per 10.000 children. 4 According to the previous study, the incidence of ocular trauma was estimated to be 46,488 cases per year among 34 provinces in Indonesia.…”

Section: Introductionmentioning

confidence: 99%

A neglected case of blunt eye injury leading to pediatric cataract: a lifetime consequence case report

Oeiyano

Mantu

Samatara³

2022

Intisari Sains Medis

View full text Add to dashboard Cite

Background: A pediatric traumatic cataract is one of the children's main causes of unilateral visual impairment. It is defined as a permanent opacification of the lens caused by penetrating or blunt trauma to the eye, which might damage the vision. A traumatic pediatric cataract is preventable and treatable. This case study aims to evaluate a neglected case of blunt eye injury leading to pediatric cataracts. Case Description: A 15-year-old boy came with chief complaints of decreased visual acuity in his left eye for the last 2 years. He has a history of blunt eye injury around 3 years prior in the left eye but left untreated. The patient's visual acuity was 1 per light perception in the left eye. An ophthalmologic examination of the left eye showed an opacity in the lens. The posterior segment cannot be examined. The patient was assessed with a traumatic cataract and was planned to be operated on, but the parents refused. Conclusion: Prompt first aid and timely surgical intervention are necessary for optimal results. Parents play a critical role in the patient's prognosis by observing closely after eye trauma and bringing their children to the right medical facility.

show abstract

“…Congenital cataracts (CC) are present in 1-6/10,000 live births in developed countries and 5-15/10,000 live births in developing countries. Most vision loss associated with CC is due to amblyopia, but some is due to postoperative complications such as glaucoma and retinal detachment [2]. Congenital cataract can be inherited as an isolated condition, or as a part of other systemic disorders including other ocular defects.…”

Section: Introductionmentioning

confidence: 99%

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Berry

Ionides

Pontikos

et al. 2020

Genes

View full text Add to dashboard Cite

Pediatric cataract is clinically and genetically heterogeneous and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with autosomal dominant congenital cataract, using whole exome sequencing. We identified four different heterozygous variants, three in the large families and one in the isolated case. Family A, with a novel missense variant (c.178G>C, p.Gly60Arg) in GJA8 with lamellar cataract; family B, with a recurrent variant in GJA8 (c.262C>T, p.Pro88Ser) associated with nuclear cataract; and family C, with a novel variant in GJA3 (c.771dupC, p.Ser258GlnfsTer68) causing a lamellar phenotype. Individual D had a novel variant in GJA3 (c.82G>T, p.Val28Leu) associated with congenital cataract. Each sequence variant was found to co-segregate with disease. Here, we report three novel and one recurrent disease-causing sequence variant in the gap junctional protein encoding genes causing autosomal dominant congenital cataract. Our study further extends the mutation spectrum of these genes and further facilitates clinical diagnosis. A recurrent p.P88S variant in GJA8 causing isolated nuclear cataract provides evidence of further phenotypic heterogeneity associated with this variant.

show abstract

Pediatric Cataract

Cited by 6 publications

References 10 publications

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

A neglected case of blunt eye injury leading to pediatric cataract: a lifetime consequence case report

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Contact Info

Product

Resources

About