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Article

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

American journal of ophthalmology - 1 Dec 2025

Tinker Rory J, Smith Logan M, Bastarache Lisa A, Ezell Kimberly M, Furuta Yutaka, Hamid Rizwan, Cogan Joy D, Phillips John A, Joos Karen M

Abstract excerpt

PURPOSE: The multicenter NIH-funded Undiagnosed Diseases Network (UDN) exists to diagnose puzzling and newly discovered conditions. We report the UDN's assistance in diagnosing perplexing ocular disorders along with 6 case illustrations. DESIGN: Retrospective Interventional Case Series. SUBJECTS: Participants with ocular phenotypes who had applied and were accepted into the UDN with detailed supporting letters...

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Identifiers

PMID: 40780579
DOI: 10.1016/j.ajo.2025.07.028
PMCID: PMC12803444

Genes

COG4
EPG5
NADK2
PRPS1
TEK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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