Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation

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.

Automated summary

This study evaluated the clinical characteristics of TM lesions in 17 infants under 1.5 years old and found no pathogenic or likely pathogenic variant of NEXMIF gene. The lesions commonly showed hypopigmentation with findings of ellipsoid zone disruption on OCT examination. Contrary to popular belief, a satellite lesion was observed in one case.