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Purpose <p>Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs, including the eyes. Ophthalmological findings in individuals with CdLS can vary, as occurs with certain features commonly associated with the syndrome, whose presence and severity can differ among patients. In this exploratory cross-sectional study, we aimed to report the ophthalmological phenotypes in a Brazilian CdLS cohort and evaluated possible genotype-phenotype associations.</p> Methods <p>Sixteen individuals with Cornelia de Lange Syndrome participated in this study. Only patients who had pathogenic or likely pathogenic variants in the <i>NIPBL</i> gene were included. Ophthalmological exams were conducted to investigate alterations in CdLS patients according to tolerance. The ophthalmic assessment comprised measurement of facial distances, ectoscopy, visual acuity, pupillary reaction, extrinsic ocular motility, slit lamp exam, tonometry, refraction under cycloplegia, and dilated fundus exam.</p> Results <p>Ocular anomalies were identified in all CdLS patients, including abnormalities of the eyebrows, eyelashes, palpebral fissures, and anterior and posterior segments, as well as refractive errors, strabismus, and nystagmus. Although some phenotypes were exclusively present in patients with specific <i>NIPBL</i> variant types, no statistical significance was identified.</p> Conclusions <p>The ophthalmological findings in patients with CdLS are diverse and often significantly impact vision and quality of life. We recommend regular ophthalmological exams from the time of diagnosis to enable detection of treatable eye conditions, including refractive errors, ptosis, dry eyes, and strabismus, as early detection is essential for appropriate interventions and the prevention of long-term visual complications.</p>

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Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月14日

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  • Thainá Vilella,
  • Beatriz Carvalho Nunes,
  • Giulia Steuernagel Del Valle,
  • Isabel Furquim Pinheiro,
  • Hiromi Aoi,
  • Takeshi Mizuguchi,
  • Rie Seyama,
  • Yuri Uchiyama,
  • Naomichi Matsumoto,
  • Chong Ae Kim,
  • Juliana Maria Ferraz Sallum,
  • Maria Isabel Melaragno,
  • Priscila Cardoso Cristovam

摘要

Purpose

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs, including the eyes. Ophthalmological findings in individuals with CdLS can vary, as occurs with certain features commonly associated with the syndrome, whose presence and severity can differ among patients. In this exploratory cross-sectional study, we aimed to report the ophthalmological phenotypes in a Brazilian CdLS cohort and evaluated possible genotype-phenotype associations.

Methods

Sixteen individuals with Cornelia de Lange Syndrome participated in this study. Only patients who had pathogenic or likely pathogenic variants in the NIPBL gene were included. Ophthalmological exams were conducted to investigate alterations in CdLS patients according to tolerance. The ophthalmic assessment comprised measurement of facial distances, ectoscopy, visual acuity, pupillary reaction, extrinsic ocular motility, slit lamp exam, tonometry, refraction under cycloplegia, and dilated fundus exam.

Results

Ocular anomalies were identified in all CdLS patients, including abnormalities of the eyebrows, eyelashes, palpebral fissures, and anterior and posterior segments, as well as refractive errors, strabismus, and nystagmus. Although some phenotypes were exclusively present in patients with specific NIPBL variant types, no statistical significance was identified.

Conclusions

The ophthalmological findings in patients with CdLS are diverse and often significantly impact vision and quality of life. We recommend regular ophthalmological exams from the time of diagnosis to enable detection of treatable eye conditions, including refractive errors, ptosis, dry eyes, and strabismus, as early detection is essential for appropriate interventions and the prevention of long-term visual complications.