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Article

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.

American journal of ophthalmology - 1 Feb 2026

Brooks Brian P, Hehn Alexandra T, Blain Delphine, Farmer Cristan, Joseph Lisa A, Wiggs Edythe, Segalà Laura, Guan Bin, Thurm Audrey, Pathapadu Ananya S

Abstract excerpt

PURPOSE: Uveal coloboma may be an isolated finding or present as part of a syndrome, informed by systemic testing. Genetic testing may elucidate an underlying cause of disease. The likelihood of developmental delay in children with coloboma has not been well-studied. We examined the rates of developmental delay in coloboma patients with syndromic vs nonsyndromic presentations and with positive and negative...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41248874
DOI: 10.1016/j.ajo.2025.11.011
PMCID: PMC12880558

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