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

Çelik, Gökhan; Günay, Murat; Vural, Aslı; Kizilay, Osman; Demirkol, Yasemin Kendir; Erol, Muhammet Kazım

doi:10.1038/s41433-021-01714-8

Cited by 1 publication

(2 citation statements)

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“…Torpedo maculopathy (TM) is a rare unilateral developmental anomaly of the retinal pigment epithelium (RPE)/ choriocapillaris complex, with a prevalence of 2/ 100,000 1 to 17/55,334. 2 It manifests as variable defects in the outer layers of the retina and four types have been described. [3][4][5] In 1992, Roseman and Gass 6 described the features of a "hypopigmented nevus of the retinal pigment epithelium," later termed torpedo maculopathy by Daily MJ.…”

Section: Introductionmentioning

confidence: 99%

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Association of torpedo maculopathy and keratoconus in a young patient: A multimodal imaging study

Cozzupoli,

Fasciani,

Fedeli

et al. 2023

European Journal of Ophthalmology

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Purpose To report and document a case of torpedo maculopathy found in a patient affected by keratoconus. Case report: An healthy 16-year-old male patient, affected by keratoconus in both eyes, was referred to the cornea service of our hospital for a follow-up visit. During the dilated fundus examination of the left eye, an oval, well-demarcated, hypopigmented lesion was observed in the juxtafoveal temporal region, pointing towards the center of the macula. Multimodal imaging of the lesion was performed, and the diagnosis of Torpedo Maculopathy was established based on the clinical picture. Conclusion This is the first case of torpedo maculopathy described in a patient affected by keratoconus. This association may be merely fortuitous or the result of developmental abnormalities affecting both corneal and retinal structures.

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