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

ABSTRACT:

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 ophthalm

SUBMITTER: Vilella T 

PROVIDER: S-EPMC12522856 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature