Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-01-02 DOI:10.1159/000543395

Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, Ozlem Simsek Kiper, Jale Karakaya, Gulen Eda Utine

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Abstract

Introduction: This is a preliminary study to investigate a feasible genotype-phenotype correlation by defining ophthalmological findings in different genotypes of Down syndrome (DS).

Methods: The study included 62 eyes of 31 DS patients. Patients were further subgrouped according to cytogenetic forms of DS. A comprehensive ophthalmological examination was performed and, biometric, keratometric, and pachymetric parameters were evaluated.

Results: The mean best-corrected visual acuity (BCVA) of trisomy 21 was 0.41 ± 0.14 (0.1-0.6) and was 0.6 ± 0.09 (0.5-0.7) for both mosaic and translocation trisomy 21 (p = 0.004). While 6 of the trisomy 21 patients (24%), 2 of the mosaic patients (66.7%), and all of the three translocation type patients had a normal accommodation response, the remaining patients had accommodation lags (p = 0.013).

Conclusions: Lens opacities and fundus abnormalities were more common in trisomy 21 (p < 0.001). The angle kappa was larger in trisomy 21 and smallest in the translocation trisomy 21 (p = 0.014). K₂ and corneal apex curvature were highest in trisomy 21 (p = 0.05 and p = 0.006, respectively). BCVA and accommodation response were reduced whereas lenticular opacities and fundus abnormalities were more common in trisomy 21. In addition, central cornea was steeper and angle kappa was larger. Further studies with larger cohorts would display differences among subgroups of cytogenetic abnormality.

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唐氏综合征的眼科和正视表现：基因型-表型相关性是否可能？

本研究旨在通过定义唐氏综合征（DS）不同基因型的眼科表现，探讨可行的基因型-表型相关性。方法：选取31例退行性椎体滑移患者62只眼。根据细胞遗传学形式进一步对患者进行亚组。进行了全面的眼科检查，并评估了生物测量、角膜测量和厚测参数。结果：21三体的平均最佳矫正视力（BCVA）为0.41±0.14(0.1 ~ 0.6)，镶嵌型和易位型21三体的平均最佳矫正视力（BCVA）为0.6±0.09 (0.5 ~ 0.7)（p = 0.004）。21三体患者中6例（24%）、马赛克患者中2例（66.7%）和3种易位型患者均有正常调节反应，其余患者有调节滞后（p = 0.013）。结论：晶状体混浊和眼底异常在21三体中更为常见（p < 0.001）。21三体的kappa角较大，易位21三体的kappa角较小（p = 0.014）。K2和角膜顶点曲率在21三体组最高（p = 0.05和p = 0.006）。BCVA和调节反应降低，而晶状体混浊和眼底异常在21三体中更为常见。中央角膜更陡，角kappa更大。对更大队列的进一步研究将显示细胞遗传学异常亚组之间的差异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.