Purpose: The etiology of torpedo maculopathy remains unknown, but it has been recently suggested that it could represent a persistent defect in the development of the retinal pigment epithelium. As retinal pigment epithelium and photoreceptors form a functional unit, an alteration of photoreceptor distribution or function is predictable. The aim of this study is to describe multimodal imaging, including adaptive optics, in three cases of torpedo maculopathy, and discuss its pathogenesis. Methods: Multimodal imaging is presented, including fundus photographs, optical coherence tomography, adaptive optics, autofluorescence, fluorescein angiography, and ultra-widefield retinal imaging in three cases of torpedo maculopathy. Results: An oval-shaped well-delimited chorioretinal lesion both hypopigmented centrally and with a hyperpigmented border in the temporal macula, consistent with torpedo maculopathy, was observed in three patients. Optical coherence tomography showed a preservation of the inner retina, a mild atrophy of the outer retina, an alteration of the ellipsoid zone and of the retinal pigment epithelium layer, and a neurosensory detachment. These lesions were hypoautofluorescent with a hyperautofluorescent border. Fluorescein angiography showed a hyperfluorescence by window effect. Adaptive optics imaging showed an alteration of the cone mosaic within the lesions, with a lower cone density and a higher spacing between cones. Conclusion: The alteration of the cone mosaic suggested by adaptive optics in torpedo maculopathy has never been described and could be explained by the alteration of the retinal pigment epithelium. Our results support the existing hypothesis on the pathogenesis of torpedo maculopathy that a persistent defect in the development of the retinal pigment epithelium may be responsible for this clinical entity.
Quantifying lipofuscin in retinal pigment epithelium in vivo by visible-light optical coherence tomography-based multimodal imaging
