Atypical Ophthalmological Manifestations of Claes-Jensen Syndrome Without Intellectual Disability: A Case Report.

Abstract

An 8-year-old boy with prenatal-onset short stature, ophthalmological abnormalities, and dysmorphic features had a KDM5C variant typically linked to Claes-Jensen syndrome with intellectual disability, which he did not have. This atypical presentation highlights the importance of ophthalmological assessments in X-linked syndromes with variable expressivity, even without classic features. [J Pediatr Ophthalmol Strabismus. 2025;62(2):e22-e26.].