Current management of infantile cataracts

Lenhart, Phoebe D.; Lambert, Scott R.

doi:10.1016/j.survophthal.2022.03.005

Cited by 26 publications

(27 citation statements)

References 253 publications

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“…Specifically, the ERCC8 gene with the dominant pathogenic frameshift variant has been reported to be associated with congenital cataracts complicated by Cockayne syndrome before. 25 , 26 No pathogenic or likely pathogenic mutations of other reported candidate genes for cataracts 27 , 28 and KC 6 were detected.…”

Section: Resultsmentioning

confidence: 93%

Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts

Hao

Yao

et al. 2022

Invest. Ophthalmol. Vis. Sci.

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Purpose The purpose of this study was to identify a new candidate gene for keratoconus and congenital cataracts and further investigate its underlying pathogenic mechanisms. Methods This study, using a Chinese family with keratoconus and congenital cataracts, 262 patients with sporadic keratoconus, and 20 patients with sporadic congenital cataract as subjects, used clinical and genetic analysis and in vitro cell experiments to detect genetic mutations and further investigate the underlying pathogenic mechanisms. Results We found that a novel frameshift mutation of ERCC8 (NM_000082.3: c.394-398del, p. L132Nfs*6) is responsible for familial keratoconus with congenital cataracts. This mutation showed co-segregation with the phenotype in the family. This was revealed in another patient with sporadic keratoconus, absent in the 210 unrelated health controls, and considered to be “disease-causing.” ERCC8 was expressed both in the cornea and lens. Through an in vitro cell experiment, we further demonstrated that the mutant proteins of ERCC8 were degraded and could lead to an insufficient dose of the ERCC8 protein. An insufficient dose reduced the DNA damage repair ability of human corneal fibroblast (HTK) and lens epithelial cells (HLEC) treated with hydrogen peroxide, leading to both cells showing higher DNA damage levels. In addition, it decreased cell viability, resulting in decreased collagen expression in HTK and increased apoptosis in HLEC via aberrant activation of the unfolded protein response. All these results suggested that ERCC8 plays an important role in the normal function of corneal stromal and lens epithelial cells. Conclusions Our study showed that ERCC8 is a new gene associated with keratoconus and congenital cataracts. Chinese Abstract

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Section: Resultsmentioning

confidence: 93%

Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts

Hao

Yao

et al. 2022

Invest. Ophthalmol. Vis. Sci.

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“…Congenital cataract refers to the opacity of the lens in early infancy. The incidence of congenital cataract in China is 0.5‰~5.6‰, and Asia is the most common region of congenital cataract (Lenhart & Lambert, 2022). Congenital cataract is mainly treated by surgery to remove the lens (Eibenberger et al, 2021), but the postoperative visual recovery depends on long-term systematic visual function rehabilitation (Lagrèze, 2020;Stech et al, 2019;Yangzes et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Develop and test the reliability and validity of the postoperative visual function rehabilitation compliance assessment scale for children with congenital cataract

Zhang,

Xie,

Xiang

2023

Preprint

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Purpose To develop the postoperative visual function rehabilitation compliance assessment scale for children with congenital cataract, and test its reliability and validity. Method The interactive model of health behavior is taken as the theoretical framework, and the first draft of the scale was constructed through literature review, qualitative interview and Delphi expert correspondence. From June 2022 to July 2023, convenience sampling was used to select 225 children with congenital cataract who were treated in the ophthalmology clinic and inpatient department of a children's hospital in Guangzhou to conduct a questionnaire survey. The items of the scale were revised and the reliability and validity were tested. ResultsThe postoperative visual rehabilitation compliance scale for children with congenital cataract included 5 dimensions and 18 items. Exploratory factor analysis extracted a total of 5 common factors, and the cumulative variance contribution rate was 68.151%. The item-level content validity index ranged from 0.730 to 1.000. The content validity index of the scale was 0.963. The total Cronbach's α coefficient, split-half reliability and test-retest reliability of the scale were 0.855, 0.778 and 0.859, respectively. ConclusionsThe postoperative visual function rehabilitation compliance scale for children with congenital cataract has good reliability and validity, which can be used to evaluate the postoperative visual function rehabilitation compliance of children with congenital cataract, and can provide reference for the clinical development of standardized nursing programs for children with congenital cataract.

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“…This limitation could be related to the fact that the term “Visual Impairment” constitutes a broad label including a very wide range of ophthalmic, orthoptic and cerebrally mediated visual disorders. Therefore, the intervention strategies for treating infants affected by VI could be extremely different according not only to the presence of PVI or CVI, but also to the aetiology of VI; from surgery in the case of congenital cataract (Lenhart & Lambert, 2022) to visual training and environmental adaptation in the case of retinopathy and CVI (Fazzi et al, 2021). Little is known about the optimal time, type and duration of early visual interventions, which are still poorly recommended by previous systematic reviews published on this topic (Williams et al, 2014; Chorna et al, 2017; Elsman et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Visual intervention in early onset visual impairment: A review

Micheletti

Merabet

Galli

et al. 2022

Eur J of Neuroscience

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Vision is a primary and motivating sense. Early visual experience derived from the external world is known to have an important impact on the development of central visual pathways, and not surprisingly, visual impairment constitutes a risk factor for overall development. In light of the role of vision in early brain development, infants and young children with visual impairment should be thus entitled to early and effective visual intervention programmes. In this review, we discuss early visual interventions in infants and young children with visual impairment, focusing on their contents and outcomes. We defined

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Current management of infantile cataracts

Cited by 26 publications

References 253 publications

Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts

Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts

Develop and test the reliability and validity of the postoperative visual function rehabilitation compliance assessment scale for children with congenital cataract

Visual intervention in early onset visual impairment: A review

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