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Updated: Oct 26, 2025
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF
Gokhan Celik1, Murat Gunay2, Asli Vural3
1Department of Opthalmology, Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, Istanbul, Turkey. 279gcelik@gmail.com.
Purpose:
To assess clinical characteristics of torpedo maculopathy (TM) lesions in an infant population with age ≤1.5 years and to investigate the role of NEXMIF mutation in the development of TM.
Methods:
Retrospective analysis of medical records of 17 consecutive infants with the diagnosis of TM between 2016 January and 2019 December were done. Fundus images and a hand-held spectral-domain optical coherence tomography (Envisu 2300, Bioptigen, Morrisville, NC, USA) were used to identify clinical characteristics of TM lesions. Additional molecular testing for mutation screening for NEXMIF gene was also carried out.
Results:
Totally 55334 infants were screened during the study period and 17 (0.03%) were identified as having TM. The mean age at the time of diagnosis was 3.94±5.08 months. All TM lesions showed variable degrees of hypopigmentation. Satellite lesion in one infant was nasally located to the main TM lesion. Absence, disruption, loss, degeneration and/or irregularity of the ellipsoid zone were common findings on OCT examination. No pathogenic or likely pathogenic variant of NEXMIF gene was detected.
Conclusion:
Fundoscopic appearance and OCT findings of lesions show similarities to those already reported previously. Contrary to popular belief, a nasally located satellite lesion was observed in one of our case.
