Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants
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.
Authors
- Maria Isabel Melaragno (ORCID: https://orcid.org/0000-0002-4344-9698)
- Beatriz Carvalho Nunes (ORCID: https://orcid.org/0000-0002-1230-1113)
- Priscila Cardoso Cristovam (ORCID: https://orcid.org/0000-0002-3999-0094)
- Hiromi Aoi (ORCID: https://orcid.org/0000-0001-9306-2830)
- Juliana Maria Ferraz Sallum (ORCID: https://orcid.org/0000-0002-7206-4447)
- Takeshi Mizuguchi (ORCID: https://orcid.org/0000-0003-4998-1244)
- Rie Seyama (ORCID: https://orcid.org/0000-0001-9522-1268)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Yuri Uchiyama (ORCID: https://orcid.org/0000-0002-4540-5277)
- Isabel Furquim Pinheiro
- Chong Ae Kim (ORCID: https://orcid.org/0000-0002-1754-1300)
- Thainá Vilella (ORCID: https://orcid.org/0000-0002-2104-4059)
- G Valle (ORCID: https://orcid.org/0000-0002-8478-998X)
Institutions
- Juntendo University (JP)
- Yokohama City University Hospital (JP)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- Universidade Federal de São Paulo (BR)
- Yokohama City University (JP)
Publication Details
- Journal
- BMC Ophthalmology
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1186/s12886-025-04401-4
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Japan Society for the Promotion of Science