Keywords
Retinal Dystrophies
Diagnostic Techniques Ophthalmological
How to Cite
Abstract
Introduction: neonatal ophthalmological screening (NOS) traditionally relies on the red reflex test (RRT) to evaluate the clarity of ocular media. However, this screening tool has limitations in detecting posterior segment pathologies, such as inherited retinal dystrophies.
Objectives: describe a clinical case of familial exudative vitreoretinopathy (FEVR) diagnosed in the neonatal period, highlighting the importance of including fundus examination in systematic ocular screening.
Case report: a full-term neonate presented with findings consistent with FEVR detected via fundus examination during NOS. The diagnosis was confirmed through genetic analysis, which revealed mutations in the FZD4 and TSPAN12 genes. Laser photocoagulation treatment was performed, achieving disease control and stabilizing the proliferative retinopathy.
Conclusions: incorporating dilated fundus examination into NOS enables the early diagnosis of treatable retinal diseases, facilitating timely intervention and optimizing visual outcomes.
References
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Copyright (c) 2026 Juan Pablo Berazategui, Carolina José, Mariana Ingolotti, Brenda Peña, Ernesto Goldschmidt, Candela Zurbriggen, Agustin Bernatzky, Florencia Di Gifico, María Sol Medina