The role of congenital cataract (CC) classification in the diagnosis and treatment of this condition mertis meticulous consideration and investigation. Given the intricate clinical phenotypes and genotypes associated with CC, multiple classification systems have been devised, each grounded in diverse principles.[1] These sytems present unqiue advantages and constrains in the applications. For example, phenotype-based classification systems effectively stratify children according to ocular or systemic abnormalities; however, they frequently fall short in comprehensively encompassing all aberrant signs and symptoms.[2,3]Conversely, gene-based classification systems faciliate molecular diagnosis and can offer genetic counseling to families, albeit their implementation in clinical practice remains restricted.[4]
To analyze the application characteristics of existing CC classification systems in the diagnosis and treatment of CC, as well as to identify future research directions, Tan et al. conducted a comprehensive systematic review and provided insightful observations. They synthesized the advantages and shortcomings of representative phenotype-based and genotype-based CC classification systems in clinical practice,. The authors emphasized that future CC classification systems should incorporate multi-dimensional phenotypic data, enable prediction of visual prognosis in children, and aid in clinical decision-making process. Furthermore, these systems should facilitate the identification of novel pathogenic genes and enhance the diagnostic accuracy of syndromic CC.
Apart from the valuable insights provided by the study, there are several other aspects in this field that warrant further improvement. Firstly, while the authors emphasized the significance of establishing a multi-dimensional phenotype CC classification system and elucidating the association between these phenotypes and prognosis in children, their proposed cluster encompassed only ocular phenotypes, neglecting potential systemic abnormalities.[5] Systemic abnormal phenotypes are crucial for diagnosing syndromic CC. Consequently, future research should concertrate on developing more comprehensive multi-dimensional phenotype clusters that incorporate both ocular and systemic features. Secondly, CC classification systems should delve deeper into the correlation between phenotypes and genotypes. A previous study conducted whole-exome sequencing in children with bilateral CC , revealing that phenotypes of bilateral asymmetric cataracts are linked to syndromic genes, and specific deep phenotypes correlate with distinct genotypes.[6] These findings have broadened the pathogenic gene spectrum of CC and enhance the diagnostic accuracy for related syndromes. Thirdly, multimodal and metabolomics research methods can provide a deeper understanding of disease pathogenesis and characteristics, thereby aiding in the formulation of treatment strategies. However, these technologies are seldom incorporated into CC classification systems. Integrating such technologies into CC classification could pave the way for the development of a more holistic and comprehensive classification system.
In summary, existing CC classification systems frequently fail to capture the entirety of the disease’s characteristics. Future efforts should prioritize the development of a comprehensive classification system that integrates the full range of phenotypes, genotypes, and prognoses associated with CC, thereby providing robust guidance for clinical treatment decision-making in children wtih CC.
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Acknowledgement
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Author Contributions
(Ⅰ) Conception and design: Yizhi Liu
(Ⅱ) Administrative support: None
(Ⅲ) Provision of study materials or patients: None
(Ⅳ) Collection and assembly of data: None
(Ⅴ) Data analysis and interpretation: None
(Ⅵ) Manuscript writing: All authors
(Ⅶ) Final approval of manuscript: All authors
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None of the author has any conflicts of interest to disclose. The author has declared in the completed the ICMJE uniform disclosure form.
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