The patient was 41-year-old Black woman without visual complaints found to have a hypopigmented lesion in her right fundus. Her uncorrected visual acuity was 20/30-1 J1+ OD and 20/20-1 J1+ OS. Her examination was otherwise unremarkable. What is the most likely diagnosis?
This patient had torpedo maculopathy, a benign condition in which there is a solid wedge-shaped hypopigmented lesion that sometimes has areas of hyperpigmentation. It is frequently located in the temporal macula and is usually associated with good vision. In most cases, there is loss of the interdigitation zone (photoreceptors) with preservation of other retinal and choroidal structures. Our patient also had localized disruption of the ellipsoid zone, and these outer retinal structures were replaced by non-reflective fluid. The other retinal layers were intact. The torpedo-like lesions of this condition are similar in shape to the lesions of Gardner’s syndrome, which is associated with several tumors, particularly adenocarcinomas of the colon. In Gardner’s syndrome, the lesions are hyperpigmented due to an excess of melanosomes, while the lesion in torpedo maculopathy is hypopigmented. Regarding the pathogenesis of the torpedo maculopathy, a leading theory is that there was a defect in RPE development.
References
Roseman RL, Gass JD. Hypopigmented nevus of the retinal pigment epithelium in the macula. Arch Ophthalmol 1992;110:1358-1359.
Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal “bulge”. Arch Ophthalmol 2010;128:499-501.
Raval V, Rao S, Sudana P, Das T. Torpedo maculopathy. J Ophthalmic Vis Res 2020; 15:113-115.
This patient had torpedo maculopathy, a benign condition in which there is a solid wedge-shaped hypopigmented lesion that sometimes has areas of hyperpigmentation. It is frequently located in the temporal macula and is usually associated with good vision. In most cases, there is loss of the interdigitation zone (photoreceptors) with preservation of other retinal and choroidal structures. Our patient also had localized disruption of the ellipsoid zone, and these outer retinal structures were replaced by non-reflective fluid. The other retinal layers were intact. The torpedo-like lesions of this condition are similar in shape to the lesions of Gardner’s syndrome, which is associated with several tumors, particularly adenocarcinomas of the colon. In Gardner’s syndrome, the lesions are hyperpigmented due to an excess of melanosomes, while the lesion in torpedo maculopathy is hypopigmented. Regarding the pathogenesis of the torpedo maculopathy, a leading theory is that there was a defect in RPE development.
References
Roseman RL, Gass JD. Hypopigmented nevus of the retinal pigment epithelium in the macula. Arch Ophthalmol 1992;110:1358-1359.
Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal “bulge”. Arch Ophthalmol 2010;128:499-501.
Raval V, Rao S, Sudana P, Das T. Torpedo maculopathy. J Ophthalmic Vis Res 2020; 15:113-115.
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