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Misdiagnosis in Referrals for Advanced Retinopathy of Prematurity
Hüseyin Baran Özdemir1, İhsan Akdağ1, Benay Karabulut1
1Department of Ophthalmology, Gazi University Faculty of Medicine, Ankara, Turkey.
Ophthalmology. Retina
|February 22, 2026
Insights
Misdiagnosis of retinopathy of prematurity (ROP) occurred in 24% of infants. Advanced imaging and genetic testing are crucial for accurate diagnosis of various retinal conditions.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Retinopathy of prematurity (ROP) is a leading cause of childhood blindness.
- Accurate diagnosis is critical for timely intervention and preventing vision loss.
Purpose of the Study:
- To evaluate the rate of misdiagnosis in infants referred for stage 4-5 ROP.
- To identify the spectrum of alternative retinal conditions that may be misdiagnosed as ROP.
- To highlight the role of advanced diagnostic tools in preventing misdiagnosis.
Main Methods:
- Retrospective review of 74 infants referred for stage 4-5 ROP.
- Analysis of diagnostic outcomes, including misdiagnoses.
- Correlation of diagnostic findings with imaging and genetic testing results.
Main Results:
- 24% of infants (18 out of 74) were initially misdiagnosed with ROP.
- Identified conditions included familial exudative vitreoretinopathy (FEVR), Coats disease, incontinentia pigmenti, dyskeratosis congenita, CAPN5- and DOCK6-related retinopathies, and ocular toxoplasmosis.
- Imaging and genetic testing were instrumental in correctly identifying these alternative diagnoses.
Conclusions:
- A significant proportion of infants referred for advanced ROP are misdiagnosed.
- A diverse range of retinal disorders can mimic ROP.
- Comprehensive diagnostic approaches, including imaging and genetic testing, are essential for accurate diagnosis and appropriate management.
Abstract
No abstract available in PubMed .
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