Torpedo maculopathy is a unilateral hypopigmented congenital retinal pigment epithelium lesion characterized by a typically torpedo-like appearance and located at the temporal portion of the macular region next to the fovea, along the horizontal raphe. It was first described by Roseman and Gass1 in 1992 and later named “torpedo maculopathy” by Daily2 due to its characteristically torpedo-like shape.
Torpedo maculopathy was previously considered to be a non-progressive congenital retinal lesion; however, it has been recently reported that the lesion demonstrates both functional and structural changes over time.3,4 There is a limited number of longitudinal follow-up studies on the natural process of the disease and the longest follow-up period to date is 5 years.
In the optical coherence tomography (OCT) studies on torpedo maculopathy, a variety of findings have been reported, ranging from minimal retinal pigment epithelium hyperreflectivity to retinal atrophy accompanied by subretinal cleft and fundus excavation.3–15 The OCT findings of these studies are summarized in Table 1.
Reported Optical Coherence Topography Findings in Patients With Torpedo Maculopathy
In most of the studies mentioned above, the ages of the observed patients ranged from 3 to 60 years and the youngest patient with reported OCT findings was 4 years of age. Therefore, to the best of our knowledge, our case presents the patient with the earliest clinical and OCT findings of torpedo maculopathy.
A 6-month-old male infant born through normal spontaneous vaginal delivery with a gestational age of 38 weeks and a birth weight of 3,290 grams presented for routine ophthalmologic examination. At the time of the examination, the family had no active complaints.
In the preliminary examination, the light reflexes were symmetric and the eyes were straight. Binocular and monocular fixation and follow-up were good. No deviation was detected during the cover–uncover test. On dynamic retinoscopy, the reflexes of both eyes were symmetrical and accommodation was present.
The refraction values obtained through cycloplegic retinoscopy were +2.50, −1.75 × 180 in both eyes. The anterior segment examinations of both eyes were unremarkable. For the binocular indirect ophthalmoscopy examination (Heine Video OMEGA 2C Binocular Indirect Video Ophthalmoscope; Heine Optotechnik, Herrsching, Germany), a sharply demarcated oval chorioretinal lesion was observed in the right eye temporal to the macula, with a torpedo-like shape with the tip pointing toward the macula on the horizontal axis (Figure 1A). The lesion had a horizontal length of approximately 1.5 optic disc diameter and a vertical length of approximately 0.5 optic disc diameter. In the fundus examination of the left eye, a normal posterior pole was observed.
(A) Indirect ophthalmoscopy fundus image of the right eye shows a flat, hypopigmented, fusiform lesion with well-defined margins and a tip pointing toward the fovea located at the temporal to macula. The black line represents the optical coherence tomography scan site. (B) Spectral-domain optical coherence tomography of the lesion shows preserved foveal contour and slight increase in the retinal pigment epithelium reflectivity in the lesion region.
To perform an in-depth analysis of the lesion, spectral-domain OCT was performed (iVue; Optovue, Inc., Fremont, CA). Spectral-domain OCT scanning was performed on the patient in the supine position following restraint of his arms and body by a nurse. An eyelid speculum and topical anesthesia using proparacaine hydrochloride 0.5% drops were used for the examination. The spectral-domain OCT system was mounted on the iStand (Optovue, Inc.) to enable various scanning positions during the examination procedure. The patient was not sedated.
The OCT results demonstrated a preserved foveal contour on the cross-section passing through the lesion and a slight increase in the retinal pigment epithelium reflectivity in the lesion region (Figure 1B).
The patient was preliminarily diagnosed as having torpedo maculopathy and serological tests were requested to exclude common infections (ie, toxoplasmosis, syphilis, rubella, cytomegalovirus, and herpes), the results of which were negative. The family was informed about the disease and no treatments were required. However, a follow-up visit was necessary due to the possibility of macular involvement and the patient was scheduled for a control assessment at 1 year of age.
In this case report, we present the clinical and OCT findings of the youngest patient with torpedo maculopathy to date. Torpedo maculopathy is a congenital retinal pigment epithelium lesion characterized by a torpedo-like appearance with variable sizes and pigmentation.
Two of the most important diseases to be considered for differential diagnosis are congenital hypertrophy of the retinal pigment epithelium and retinal lesions, which are observed in Gardner syndrome. Congenital hypertrophy of retinal pigment epithelium lesions is usually solitary; however, they may also exist in multiple-arranged forms, such as clusters or “bear tracks.” Solitary lesions may occur in varying sizes and lateralities and are characterized by hyperpigmented lesions with depigmented lacunae surrounded by a hypopigmented halo. However, the retinal pigment epithelium lesions observed in patients with Gardner syndrome are hyperpigmented multiple lesions that are usually found bilaterally on the mid-periphery with various shapes. Lesions are typically less than 1 cm in size. They are associated with familial adenomatous polyposis with malignant or benign extra-colonic findings. Choroidal lesions such as nevus, melanoma, or chorioretinal lesions develop secondarily with trauma, drugs, infection, and inflammation and should be considered for differential diagnosis.
Various clinical findings were reported in the literature regarding torpedo maculopathy. Trevino et al.10 defined these findings as constant and variable features. Constant features were congenital, hypopigmentation, location in the temporal to the fovea, and horizontally oval in shape. Variable features were the presence of fundus excavation, hyperpigmentation, intraretinal cleft, a frayed-tail temporal margin, and visual field defects. A similar variety in the clinical features was also observed in OCT findings (Table 1).
Wong et al.12 evaluated the lesions with OCT, fundus autofluorescence, and visual field analysis. The authors classified the OCT findings as type 1 and type 2 lesions. Type 1 lesions were defined as a normal inner retina, the attenuation of the interdigitation zone, and the ellipsoid zone in the outer retina without outer retinal cavitation. Type 2 lesions were defined as the presence of outer retinal cavitation and inner choroidal excavation in addition to the findings mentioned above. The authors also proposed that it is possible for the patients to progress from type 1 to type 2, and the occurrence of type 1 lesions in the younger patient populations has supported this condition.
Although there are various findings in OCT studies, most demonstrate an increased reflectivity of the retinal pigment epithelium and choroidal hyperreflectivity at the lesion site. We observed mild hyperreflectivity of retinal pigment epithelium at the lesion site in the current study, which may be evaluated as the earliest OCT finding in torpedo maculopathy.
From this point of view, although torpedo maculopathy is generally considered to be an asymptomatic and non-progressive disease, it may demonstrate both functional and morphological changes over time. This is further supported by the functional and morphological variety of the above reported cases.
In the current case presentation, we did not observe a significant disturbance in the OCT scans; however, this may be because the disease is at the initial phase. For this reason, the current case should be further followed to assess the morphological and functional changes to shed light on the development of the process of torpedo maculopathy.
- Roseman RL, Gass JD. Solitary hypopigmented nevus of the retinal pigment epithelium in the macula. Arch Ophthalmol. 1992;110:1358–1359. Erratum in: Arch Ophthalmol. 1992;110:1762. doi:10.1001/archopht.1992.01080220020005 [CrossRef]
- Daily MJ. Torpedo maculopathy or paramacular spot syndrome. Presented at: New Dimensions in Retina Symposium. ; November 10–13, 1993. ; Chicago, IL. .
- Sanabria MR, Coco RM, Sanchidrian M. OCT findings in torpedo maculopathy. Retin Cases Brief Rep. 2008;2:109–111. doi:10.1097/ICB.0b013e318033a130 [CrossRef]
- Rohl A, Vance S. Hyperpigmented torpedo maculopathy with pseudo-lacuna: a 5-year follow-up. Case Rep Ophthalmol. 2016;7:184–190. doi:10.1159/000445497 [CrossRef]
- Tsang T, Messner LV, Pilon A, Lombardi L. Torpedo maculopathy: in-vivo histology using optical coherence tomography. Optom Vis Sci. 2009;86:E1380–E1385. doi:10.1097/OPX.0b013e3181be0724 [CrossRef]
- Golchet PR, Jampol LM, Mathura JR, Daily MJ. Torpedo maculopathy. Br J Ophthalmol. 2010;94:302–306. doi:10.1136/bjo.2009.162669 [CrossRef]
- Su Y, Gurwood AS. Neurosensory retinal detachment secondary to torpedo maculopathy. Optometry. 2010;81:405–407. doi:10.1016/j.optm.2010.06.001 [CrossRef]
- Pilotto E, Zannin ME, Convento E, Cortese M, Midena E. Torpedo maculopathy: a morphofunctional evaluation. Int Ophthalmol. 2013;33:71–74. doi:10.1007/s10792-012-9618-1 [CrossRef]
- Cullen C, Zaborowski AG. A case report of torpedo maculopathy in an African boy. J AAPOS. 2013;17:625–626. doi:10.1016/j.jaapos.2013.07.009 [CrossRef]
- Trevino R, Kiani S, Raveendranathan P. The expanding clinical spectrum of torpedo maculopathy. Optom Vis Sci. 2014;91:S71–S78. doi:10.1097/OPX.0000000000000181 [CrossRef]
- Buzzonetti L, Petroni S, Catena G, Iarossi G. Optical coherence tomography and electrophysiological findings in torpedo maculopathy. Doc Ophthalmol. 2015;130:65–70. doi:10.1007/s10633-014-9472-8 [CrossRef]
- Wong EN, Fraser-Bell S, Hunyor AP, Chen FK. Novel optical coherence tomography classification of torpedo maculopathy. Clin Exp Ophthalmol. 2015;43:342–348. doi:10.1111/ceo.12435 [CrossRef]
- Papastefanou VP, Vázquez-Alfageme C, Keane PA, Sagoo MS. Multimodality imaging of torpedo maculopathy with swept-source, en face optical coherence tomography and optical coherence tomography angiography [published online ahead of print October 19, 2016]. Retin Cases Brief Rep.
- Hansen MS, Larsen M, Hove MN. Optical coherence tomography of torpedo maculopathy in a patient with tuberous sclerosis. Acta Ophthalmol. 2016;94:736–737. doi:10.1111/aos.12934 [CrossRef]
- Dolz-Marco R, Saffra NA, Freund KB. Torpedo maculopathy presenting with a vitelliform lesion. Retina. 2017;37:E19–E20. doi:10.1097/IAE.0000000000001305 [CrossRef]
Reported Optical Coherence Topography Findings in Patients With Torpedo Maculopathy
|Author||Patient Age (y)||Patient Gender||Progression||Optical Coherence Topography Findings|
|Sanabria et al.3||12||Female||No, 5 years||Retinal thinning, increased retinal pigment epithelium reflectivity, and choroidal hyperreflectivity|
|13||Female||Yes, 5 years||Retinal atrophy, serous neurosensory detachment, increased retinal pigment epithelium reflectivity, choroidal hyperreflectivity, and atrophic choriocapillaris|
|Rohl & Vance4||10||Male||Yes, 5 years||Outer retinal thinning, interruption in ellipsoid zone, subretinal cleft, and choroidal hyperreflectivity|
|Tsang et al.5||18||Male||N/A||Attenuation of retinal fibers, increased retinal pigment epithelium reflectivity, and optical shadowing of choroid|
|9||Female||N/A||Attenuation of retinal fibers, disruption of overlying retinal layers, and increased RPE retinal pigment epithelium|
|25||Female||N/A||Retinal disorganization, increased retinal pigment epithelium reflectivity, and choroidal hyperreflectivity|
|Golchet et al.6||33||Female||No, 4 years||Absence of retinal pigment epithelium, irregular photoreceptor layer, subretinal cleft, and choroidal hyperreflectivity|
|18||Male||No, 4 years||Thin retinal pigment epithelium signal and subretinal cleft|
|Su & Gurwood7||38||Female||N/A||Retinal thinning, sensory retinal detachment, photoreceptor loss, disruption of retinal pigment epithelium band|
|Pilotto et al.8||4||Female||No, 1 year||Thin retinal pigment epithelium signal and choroidal hyperreflectivity|
|Cullen & Zaborowski9||10||Male||N/A||Disruption of the photoreceptor–retinal pigment epithelium complex and subretinal cleft|
|Trevino et al.10||25||Female||N/A||Degeneration of inner retina, disorganization of retinal pigment epithelium and outer retinal layers, and choroidal excavation|
|22||Female||N/A||Retinal disorganization, retinal atrophy, no clearly identifiable fovea, and choroidal excavation|
|Buzzonetti et al.11||6||Male||No, 1 year||Retinal thinning, sensory retinal detachment, photoreceptor loss, and disruption in the retinal pigment epithelium band|
|Wong et al.12||14||Female||N/A||Attenuation of interdigitation and ellipsoid zone, outer nuclear layer thinning, and choroidal hyperreflectivity|
|15||Male||N/A||Attenuation of interdigitation and ellipsoid zone, outer nuclear layer thinning, and choroidal hyperreflectivity|
|37||Female||N/A||Attenuation of interdigitation and ellipsoid zone and choroidal hyperreflectivity|
|59||Male||N/A||Loss of the ellipsoid and interdigitation zones, outer nuclear layer thinning, subretinal cleft, choroidal excavation, and choroidal hyperreflectivity|
|73||Female||N/A||Loss of the ellipsoid and interdigitation zones, outer nuclear layer thinning, subretinal cleft, choroidal excavation, and choroidal hyperreflectivity|
|Papastefanou et al.13||24||Male||N/A||Retinal thinning, disruption of outer plexiform layer, photoreceptor loss, subretinal cleft, hyperreflective retinal pigmentepithelium band, choroidal excavation, and expansion of the Sattler layer|
|57||Female||N/A||Retinal thinning, disruption of outer plexiform layer, photoreceptor loss, subretinal cleft, hyperreflective retinal pigment epithelium band, and choroidal excavation|
|Hansen et al.14||12||Male||No, 5 years||Distribution of photoreceptor layer, retinal pigment epithelium thinning, outer retinal cavitation, and choroidal hyperreflectivity|
|Dolz-Marco et al.15||7||Male||No, 4 years||Thickening of ellipsoid zone, hyperreflective subretinal material, subretinal fluid, and vitelliform lesion|