The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics
Systemic findings are common in patients presenting with isolated coloboma, underscoring the need for deep phenotyping. In our study, a molecular diagnosis was obtained in only a minority, implying undiscovered genetic or environmental factors. Those patients with ≥2 systemic findings were more likely to be developmentally delayed and to have a positive molecular diagnosis. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.
Authors
- Brian P. Brooks (ORCID: https://orcid.org/0000-0002-1916-7551)
- Alain Hehn (ORCID: https://orcid.org/0000-0003-4507-8031)
- Audrey Thurm (ORCID: https://orcid.org/0000-0002-0489-9485)
- Lisa Joseph (ORCID: https://orcid.org/0000-0001-6862-3616)
- Edythe Wiggs
- Delphine Blain (ORCID: https://orcid.org/0000-0002-9275-5827)
- Bin Guan (ORCID: https://orcid.org/0000-0001-5986-5189)
- Cristan Farmer
- Ananya S Pathapadu
- Laura Segalà
Institutions
- National Institutes of Health (US)
- Walter Reed National Military Medical Center (US)
- National Institute of Neurological Disorders and Stroke (US)
- National Eye Institute (US)
- National Institute of Mental Health (US)
Publication Details
- Journal
- American Journal of Ophthalmology
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1016/j.ajo.2025.11.011
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00