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Article

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

Eye (London, England) - 1 Aug 2022

Celik Gokhan, Gunay Murat, Vural Asli, Kizilay Osman, Demirkol Yasemin Kendir, Erol Muhammet Kazim

Abstract excerpt

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...

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Identifiers

PMID: 34326501
DOI: 10.1038/s41433-021-01714-8
PMCID: PMC9307558

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