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

ABSTRACT:

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 written by ophthalmologists or other clinicians when clinically indicated genetic and laboratory testing results were not diagnostic.

Methods

Human Phenotype Ontology Codes were used to identify and categorize subjects with ocular phenotypes. Advanced genomic technologies (exome, genome, mitochondrial and RNA sequencing, X-inactivation analysis, immunoblot a

SUBMITTER: Tinker RJ 

PROVIDER: S-EPMC12803444 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature