Ophthalmic Surgery, Lasers and Imaging Retina

Imaging Review 

Distinguishing Torpedo Maculopathy From Similar Lesions of the Posterior Segment

Victor M. Villegas, MD; Stephen G. Schwartz, MD, MBA; Harry W. Flynn, MD; Hilda Capó, MD; Audina M. Berrocal, MD; Timothy G. Murray, MD, MBA; J. William Harbour, MD

Abstract

Torpedo maculopathy is a congenital solitary, oval-shaped lesion typically located temporal to the center of the macula. Congenital hypertrophy of the retinal pigment epithelium (RPE), RPE lesions of Gardner syndrome, and other lesions can present with similar characteristics. Because of its unique clinical and imaging features, torpedo maculopathy generally can be differentiated from other posterior segment lesions.

[Ophthalmic Surg Lasers Imaging Retina. 2014;45:222–226.]

From the Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.

Partially supported by NIH Center Core Grant P30EY014801, an unrestricted grant from Research to Prevent Blindness, and the Department of Defense (DOD Grant W81XWH-09-1-0675).

Dr. Schwartz is a consultant for Alimera, Bausch + Lomb, and Santen, and a speaker for Regeneron and ThromboGenics. Dr. Berrocal is a consultant for Alcon and ThromboGenics and a speaker for Clarity. Dr. Harbour is a consultant for Castle Biosciences. The remaining authors have no financial or proprietary interest in the materials presented herein.

Address correspondence to Stephen G. Schwartz, MD, MBA, Bascom Palmer Eye Institute, 311 9th Street North, Suite 100, Naples, FL 34102; 239-659-3937; fax: 239-659-3985; email: sschwartz2@med.miami.edu.

Received: October 15, 2013
Accepted: February 10, 2014
Posted Online: April 17, 2014

Abstract

Torpedo maculopathy is a congenital solitary, oval-shaped lesion typically located temporal to the center of the macula. Congenital hypertrophy of the retinal pigment epithelium (RPE), RPE lesions of Gardner syndrome, and other lesions can present with similar characteristics. Because of its unique clinical and imaging features, torpedo maculopathy generally can be differentiated from other posterior segment lesions.

[Ophthalmic Surg Lasers Imaging Retina. 2014;45:222–226.]

From the Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.

Partially supported by NIH Center Core Grant P30EY014801, an unrestricted grant from Research to Prevent Blindness, and the Department of Defense (DOD Grant W81XWH-09-1-0675).

Dr. Schwartz is a consultant for Alimera, Bausch + Lomb, and Santen, and a speaker for Regeneron and ThromboGenics. Dr. Berrocal is a consultant for Alcon and ThromboGenics and a speaker for Clarity. Dr. Harbour is a consultant for Castle Biosciences. The remaining authors have no financial or proprietary interest in the materials presented herein.

Address correspondence to Stephen G. Schwartz, MD, MBA, Bascom Palmer Eye Institute, 311 9th Street North, Suite 100, Naples, FL 34102; 239-659-3937; fax: 239-659-3985; email: sschwartz2@med.miami.edu.

Received: October 15, 2013
Accepted: February 10, 2014
Posted Online: April 17, 2014

Background

In 1992 Roseman and Gass reported a unilateral, solitary hypopigmented nevus of the retinal pigment epithelium (RPE) in the macula of a 12-year-old boy with 20/20 visual acuity.1 Daly subsequently introduced the term “torpedo maculopathy” to describe this presumed congenital lesion.2 The differential diagnosis includes congenital hypertrophy of the RPE (CHRPE), RPE lesions of Gardner syndrome, and other lesions (Table 1). These lesions all may appear similar on clinical examination.

Distinguishing Torpedo Maculopathy From Similar Lesions

Table 1:

Distinguishing Torpedo Maculopathy From Similar Lesions

Features of Torpedo Maculopathy

Torpedo maculopathy is clinically characterized as an asymptomatic solitary, flat, ovoid lesion with well-defined margins that is typically located temporal to the center of the macula. The lesion characteristically has a head pointing towards the fovea, plus a variable tail configuration (Figure 1A). Pigmentation is variable, but most lesions are hypopigmented; some lesions are hyperpigmented, especially at the tail. The lesions are generally longer in the horizontal than in the vertical axis. No lesion involving the fovea has been reported. No systemic associations have been reported.3,4

Torpedo maculopathy, right eye. Color fundus photography. Note flat, variably pigmented lesion temporal to center of macula.

Figure 1A.

Torpedo maculopathy, right eye. Color fundus photography. Note flat, variably pigmented lesion temporal to center of macula.

Optical coherence tomography (OCT) features of torpedo maculopathy include outer retinal structural abnormalities including thinning of the retina and RPE, photoreceptor loss, outer retinal clefts, and increased reflectivity of the choroid (Figure 1B, page 224). Fundus autofluorescence shows hypoautofluorescence of the lesion. A window defect is typically seen on fluorescein angiography. Visual fields show a corresponding scotoma.3

Spectral-domain optical coherence tomography. Note thinning of retina and retinal pigment epithelium, as well as increased choroidal reflectivity temporal to the center of the macula.

Figure 1B.

Spectral-domain optical coherence tomography. Note thinning of retina and retinal pigment epithelium, as well as increased choroidal reflectivity temporal to the center of the macula.

Features of CHRPE

CHRPE is clinically characterized by an asymptomatic, flat, variably pigmented lesion at the level of the RPE. The prevalence has been reported as 1.2%.5 It may have depigmented lacunae and/or a surrounding hypopigmented halo (Figure 2A, page 224). These lesions are generally solitary but may occur in clusters, sometimes referred to as congenital grouped pigmentation of the RPE, or “bear tracks.”6 Alternatively, grouped depigmented lesions are called congenital grouped albinotic spots of the retinal pigment epithelium, or “polar bear tracks.”7 Typical solitary CHRPE rarely occurs in the macula (1%) and may enlarge over time.8 Malignant transformation has been reported,9 but there are no systemic associations.

Congenital hypertrophy of the retinal pigment epithelium, left eye. (A) Color fundus photography. Note flat, darkly pigmented lesion with depigmented lacunae and surrounding depigmented halo. (B) Spectral-domain optical coherence tomography. Note thinning and disorganization of retina.

Figure 2.

Congenital hypertrophy of the retinal pigment epithelium, left eye. (A) Color fundus photography. Note flat, darkly pigmented lesion with depigmented lacunae and surrounding depigmented halo. (B) Spectral-domain optical coherence tomography. Note thinning and disorganization of retina.

OCT of CHRPE is characterized by retinal thinning, photoreceptor loss, disorganized retinal anatomy, increased RPE thickness, and decreased reflectivity of the choroid (Figure 2B).10,11 Choroidal cavitation has been reported on OCT.12 Fundus autofluorescence is characterized by hypoautofluorescence, although the lacunae may show mild hyperautofluorescence.13,14 Fluorescein angiography typically demonstrates blocking, although the lacunae may show small window defects. A corresponding visual field defect is associated.8

Features of Gardner Syndrome

Similar RPE lesions are associated with Gardner syndrome, a variant of familial adenomatous polyposis with extracolonic findings including benign and malignant tumors in multiple body systems. The causative gene is APC.15 The lesions were called CHRPE in older literature16–18 and have been variously described as pigmented ocular fundus lesions15 or congenital grouped pigmentation.19 Typical solitary CHRPE is not associated with Gardner syndrome. RPE lesions of Gardner syndrome are typically multiple, small (less than 1 mm), flat, bilateral, and ovoid to round and occur predominantly in the equator and midperiphery (Figure 3A, page 225). Some lesions have a hypopigmented halo or a hypopigmented tapered tail that can point in any direction. They may appear similar to grouped pigmentation of the RPE (bear tracks), but certain characteristics may distinguish them. Bear tracks are more likely to be unilateral and sectoral, whereas RPE lesions of Gardner syndrome are generally bilateral and more widely spread. Larger bear tracks are more likely to be located in the peripheral fundus, while larger RPE lesions of Gardner syndrome are more likely to be located posteriorly. RPE lesions of Gardner syndrome tend to be more variable in appearance than bear tracks.6

RPE lesion of Gardner syndrome, right eye. (A) Color fundus photography, right eye. Note flat, ovoid pigmented lesion in midperiphery. A similar lesion was present in the left eye. (B) SD-OCT, right eye. This is the first reported SD-OCT of this lesion. A similar lesion was present in the left eye.

Figure 3.

RPE lesion of Gardner syndrome, right eye. (A) Color fundus photography, right eye. Note flat, ovoid pigmented lesion in midperiphery. A similar lesion was present in the left eye. (B) SD-OCT, right eye. This is the first reported SD-OCT of this lesion. A similar lesion was present in the left eye.

RPE lesions of Gardner syndrome are present in about 70% of patients with Gardner syndrome, but their presence has high specificity. The presence of four or more RPE lesions predicts colon polyps in patients at risk for Gardner syndrome,17 and RPE lesions plus radio-opaque jaw lesions carry even higher predictive efficacy.20

To our knowledge, OCT characteristics of RPE lesions of Gardner syndrome have not been reported. Histological studies have demonstrated a full-thickness intraretinal RPE hamartoma.21 An OCT performed on a lesion in a patient with Gardner syndrome at our institution showed retinal thinning, photoreceptor loss, and increased RPE thickness, but no intraretinal pigment clumping (Figure 3B, page 225). Fluorescein angiography reveals blocking in hyperpigmented areas and window defects in hypopigmented areas. Vascular abnormalities including capillary nonperfusion, capillary microaneurysms, chorioretinal anastomoses, and attenuation of the retinal vessels have been reported.22 A corresponding visual field defect may be associated.18

Conclusion

In summary, torpedo maculopathy, CHRPE, grouped pigmentation (“bear tracks”), and RPE lesions of Gardner syndrome may be identified in the posterior segments of children and adults. Although the lesions may appear similar, they are associated with different ocular and systemic morbidities (Table 2, page 225), and a precise diagnosis should be made whenever possible.

Systemic Associations of Posterior Segment Lesions and Suggested Management

Table 2:

Systemic Associations of Posterior Segment Lesions and Suggested Management

References

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  2. Daily MJ. Torpedo maculopathy or paramacular spot syndrome. Presented at: New Dimensions in Retina Symposium. ; Chicago, IL. ; Nov. 7, 1993. .
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  5. Coleman P, Barnard NA. Congential hypertrophy of the retinal pigment epithelium: prevalence and ocular features in the optometric population. Ophthalmic Physiol Opt. 2007;27(6):547–555. doi:10.1111/j.1475-1313.2007.00513.x [CrossRef]
  6. Traboulsi EI. Pigmented and depigmented lesions of the ocular fundus. Curr Opin Ophthalmol. 2012;23(5):337–343. doi:10.1097/ICU.0b013e32835622b0 [CrossRef]
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  17. Traboulsi EI, Maumenee IH, Krush AJ, et al. Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyposis in Gardner’s syndrome. Arch Ophthalmol. 1990;108(4):525–526. doi:10.1001/archopht.1990.01070060073052 [CrossRef]
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  19. Shields JA, Shields CL, Shah PG, Pastore DJ, Imperiale SM Jr, . Lack of association among typical congenital hypertrophy of the retinal pigment epithelium, adenomatous polyposis, and Gardner syndrome. Ophthalmology. 1992;99(11):1709–1713. doi:10.1016/S0161-6420(92)31736-1 [CrossRef]
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Distinguishing Torpedo Maculopathy From Similar Lesions

Torpedo MaculopathyCHRPERPE Lesions of Gardner Syndrome
LocationTemporal to center of maculaVariable (1% in macula)Midperiphery
NumberSolitarySolitary or multipleTypically multiple and bilateral
Lesion bordersSharpSharpSharp
Lesion shapeFlat, ovoid, torpedo-shapedFlat, ovoidFlat, round to ovoid, pisciform
Lesion sizeLonger in the horizontal axisVariableUsually < 1 mm
LateralityUnilateralVariableBilateral
PigmentationHypopigmented head, variable tail pigmentationHyperpigmented with depigmented lacunae, hypopigmented haloHyperpigmented with hypopigmented tail
Optical coherence tomographyRetinal and RPE thinning, photoreceptor loss, outer retinal clefts, increased choroidal reflectivityRetinal thinning, photoreceptor loss, disorganized retinal anatomy, RPE thickening, decreased choroidal reflectivityRetinal thinning, photoreceptor loss, RPE thickening, possibly intraretinal RPE
AutofluorescenceHypoautofluorescentHypoautofluorescent, lacunae are hyperautofluorescentNot reported
Fluorescein angiographyWindow defectBlocking, lacunae show window defectsBlocking and window defects
Visual field defectYesYesYes

Systemic Associations of Posterior Segment Lesions and Suggested Management

LesionSystemic AssociationsManagement
Torpedo maculopathyNoneObserve
CHRPERare risk of RPE adenomaObserve
Grouped pigmentation (“bear tracks”)NoneObserve
RPE lesions of Gardner syndromeGardner syndromeTake personal and family history; consider referral to gasteroenterologist; consider APC gene testing

10.3928/23258160-20140410-01

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