Visual outcomes and complications of congenital cataract surgery

Louison, S.; Blanc, John-Paul; Pallot, Charlotte; Seydou, Alassane; Praudel, A.; Bron, Alain M.; Creuzot‐Garcher, Catherine

doi:10.1016/j.jfo.2018.10.007

Cited by 24 publications

(13 citation statements)

References 25 publications

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“…Despite remarkable improvements in cataract surgery, there are still limitations in eye surgery for infants (Louison et al, 2019). The research of non‐surgical treatment of congenital cataract is expected to make a breakthrough.…”

Section: Introductionmentioning

confidence: 99%

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

Qiao

et al. 2021

Molec Gen & Gen Med

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Background This study aims to identify the underlying genetic defects of β‐crystallin (CRYB) genes responsible for congenital cataracts in a group of Chinese families. Methods Detailed family history and clinical data of six Chinese families with autosomal dominant congenital cataracts were recorded. Targeted exome sequencing was applied to detect the underlying genetic defects for the families. Generated variants were confirmed by PCR and sanger sequencing. Afterward, bioinformatic analysis through several computational predictive programs was performed to assess impacts of mutations on protein structure and function. Results A total of 53 participants (23 affected and 30 unaffected) from six unrelated Chinese families were recruited. Cataract phenotypes covered nuclear, total, posterior polar, pulverulent, snowflake‐like, and zonular. Through targeted exome sequencing, six mutations in four β‐crystallin genes were revealed which included five missense mutations CRYBB1 p.Q70P, CRYBB2 p.E23Q, CRYBB2 p.A49V, CRYBB2 R188C, CRYBA4 p.M14K and one splice mutation CRYBB3 c.75+1 G>A. In silico results predicted pathogenic for all four missense variants except variant CRYBB2‐p.A49V yielded results as tolerant. The CRYBB3 c.75+1 G>A splice site mutation was predicted to be deleterious by leading to a broken splice site, a premature stop codon, and subsequently resulting in a short peptide of 113 amino acids, which may affect protein features. Conclusion The obtained results expanded mutational and phenotype spectrum of β‐crystallin genes and offer clues for pathogenesis of congenital cataracts. The data also demonstrated that targeted exome sequencing is valuable for providing molecular diagnostic information for congenital cataract patients.

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Section: Introductionmentioning

confidence: 99%

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

Qiao

et al. 2021

Molec Gen & Gen Med

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“…Optimal visual outcomes are achieved by early identification and swift surgical intervention, combined with amblyopia treatment. Bilateral congenital cataracts have better visual outcomes post-surgery than unilateral cataract [5].…”

Section: Introductionmentioning

confidence: 95%

Targeted next generation sequencing gene panels used to improve diagnosis of congenital cataract and current treatment strategies

Hearne¹,

Deanery²,

Lightman³

et al. 2021

J Clin Images Med Case Rep

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“…Congenital cataract can be unilateral or bilateral, inherited, idiopathic or caused by metabolic disease or complex syndromes. To enable the visual pathway to develop, thus avoid amblyopia, early surgery is warranted (Birch & Stager, 1988) and in bilateral cases, the prognosis for obtained vision is relatively good (Louison et al, 2019;Lundvall & Kugelberg, 2002a). In unilateral cases the development of the visual pathway from the affected eye competes with the image from the healthy eye.…”

Section: Introductionmentioning

confidence: 99%

“…In unilateral cases the development of the visual pathway from the affected eye competes with the image from the healthy eye. In those cases, good vision can sometimes be achieved, but it requires that the surgery is performed before three months of age and that the parents adhere to the occlusion therapy schedule (Louison et al, 2019;Lundvall & Kugelberg, 2002b). During surgery, the clouded lens is removed, and in many countries, it is replaced with an intra-ocular lens (IOL) if the eye is large enough; if the eye is too small it is left without an implanted lens (aphakic).…”

Section: Introductionmentioning

confidence: 99%

“…The clinical outcome and secondary complications following surgery for congenital cataract is closely monitored in the Swedish Paediatric Cataract Register (PECARE) as well as reported in several international studies (Freedman et al, 2015;Louison et al, 2019;Lundvall & Kugelberg, 2002a, 2002bMurphy et al, 2019;Negalur et al, 2018). On the contrary, there are very few studies that focus on parental needs, and when planning this study, it was to our knowledge the first one done in this area, so it was considered theory generating rather than theory testing.…”

Section: Introductionmentioning

confidence: 99%

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Swedish Parents' Experiences and Their Need for Support When Having a Child with Congenital Cataract: A Qualitative Study

Lima

Kugelberg

Jirwe

2021

Journal of Pediatric Nursing

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To explore parents' experiences of living with a child with congenital cataract, with the intention of identifying how to improve the parental support. Design and method: A qualitative descriptive design using semi-structured interviews. The parents were interviewed when the children were aged 12-24 months. All children were operated on for congenital cataract before three months of age. The interviews were transcribed and analysed using qualitative content analysis with an inductive approach. Findings were reported following the Standard for Reporting Qualitative Research (SRQR) checklist. Results: Three categories emerged from the data: trying to survive during a chaotic time; adapting to a different normal; being in need of support. When receiving the preliminary diagnosis, most of the parents were upset but managed well once the initial shock had subsided. However, some described feelings of despair, difficulties in accepting the situation and in connecting with the child. All parents stated that, to be valuable, a counsellor needed to have insights in how the eye works and the function of visual development. Conclusion:The parents' need for psychosocial support in the early post-diagnostic stage varied greatly. Early identification of those in need of specialized counselling is therefore of importance, preferably at the maternity ward or by the regional ophthalmologist when the referral is made. Clinical implications:The study provides understanding of the importance to take the parents' well-being beyond the medical issues into consideration. This knowledge can be used to provide support at an earlier stage in the treatment programme than is currently the case.

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Visual outcomes and complications of congenital cataract surgery

Cited by 24 publications

References 25 publications

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families

Targeted next generation sequencing gene panels used to improve diagnosis of congenital cataract and current treatment strategies

Swedish Parents' Experiences and Their Need for Support When Having a Child with Congenital Cataract: A Qualitative Study

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