FACTORS INFLUENCING THE DELAYED DIAGNOSIS OF STARGARDT DISEASE AND IMPACT ON THERAPEUTIC OPPORTUNITIES

Patients with STGD face long delays from symptom onset to molecular diagnosis, with progressive vision loss and missed opportunities for clinical trial enrollment. Contributing factors include age of onset, types of initial symptoms, and transitions in care from subspecialist to IRD specialist. Multimodal screening, more streamlined referral pathways, expedited genetic testing, and greater awareness of highly variable STGD phenotypes may mitigate these delays.

Authors

Institutions

Publication Details

Journal
Retina
Published
2025-09-23
DOI
https://doi.org/10.1097/iae.0000000000004691
Primary Topic
Retinal Development and Disorders
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

FACTORS INFLUENCING THE DELAYED DIAGNOSIS OF STARGARDT DISEASE AND IMPACT ON THERAPEUTIC OPPORTUNITIES

Angela S. Li, Ramiro S. Maldonado, Cesar Estrada Puente
Retina
Retinal Development and Disorders
article

FACTORS INFLUENCING THE DELAYED DIAGNOSIS OF STARGARDT DISEASE AND IMPACT ON THERAPEUTIC OPPORTUNITIES

Angela S. Li, Ramiro S. Maldonado, Cesar Estrada Puente
article en

Abstract

Patients with STGD face long delays from symptom onset to molecular diagnosis, with progressive vision loss and missed opportunities for clinical trial enrollment. Contributing factors include age of onset, types of initial symptoms, and transitions in care from subspecialist to IRD specialist. Multimodal screening, more streamlined referral pathways, expedited genetic testing, and greater awareness of highly variable STGD phenotypes may mitigate these delays.

RetinaVol. 46(2)
Duke University (US)
Openalex Percentile: Top 77%
Retinal Development and Disorders
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.