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Torpedo Maculopathy at the Site of the Fetal “Bulge”

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Torpedo Maculopathy at the Site of the Fetal “Bulge” SMALL CASE SERIES SECTION EDITOR: W. RICHARD GREEN, MD ward the foveola. This defect closely The flat, nonpigmented lesion mea- Torpedo Maculopathy resembles solitary CHRPE but dif- sured 2 mm horizontally and 1 mm at the Site of the fers in its nonrandom macular lo- vertically and was located 4 mm tem- Fetal “Bulge” cation and pointed torpedo shape.5-8 poral to the optic disc (Figure 2). In the few reported cases, there have Toxoplasmosis titer results were been no systemic associations. negative. Observation was advised. Torpedo maculopathy was discov- Herein, we describe 2 cases of tor- ered in 2 children as a pointed-oval pedo maculopathy and speculate as Comment. In 1992, Roseman and retinal pigment epithelial (RPE) de- to its embryogenesis. Gass3 described a 12-year-old boy fect in the temporal macula. This with a small, flat, circumscribed, oval congenital finding could be related Report of Cases. Case 1. On rou- RPE lesion in the temporal macula. to the fetal temporal macular “bulge” tine eye examination, a 3-year-old Additional reports confirmed the con- that normally occurs at 4 to 6 girl with fix-and-follow visual acu- sistent pointed oval configuration and months’ gestation at the same site. ity was discovered to have a tempo- macular location of this condition There are several congenital ral macular RPE defect with a (Table).5-8 Rigotti and associates7 re- anomalies of the RPE, including con- pointed-oval shape directed toward ported 3 cases of asymptomatic tor- genital hypertrophy of the RPE the foveola and hyperpigmented pedo maculopathy in a child and 2 (CHRPE), combined hamartoma of “frayed tail” appearance directed to- adults. Other articles have displayed the retina and RPE, congenital simple ward the ora serrata. The flat, non- images of similar lesion dimensions hamartoma of the RPE, RPE hyper- pigmented lesion measured 2 mm measuring 2 to 3 mm horizontally and plasia associated with familial ad- horizontally and 1 mm vertically and 1 mm vertically.5-8 enomatous polyposis, and torpedo was located 3.2 mm temporal to the Congenital hypertrophy of the maculopathy.1,2 In 1992, Roseman optic disc (Figure 1). Observation RPE is a flat congenital RPE lesion and Gass3 described the features of was advised. that appears pigmented or nonpig- “hypopigmented nevus of the reti- Case 2. An 11-year-old girl with mented and characteristically has nal pigment epithelium,” which was uncorrected 20/20 visual acuity was rounded or scalloped margins.2 Soli- later called torpedo maculopathy.4 discovered on routine eye examina- tary CHRPE is located most often in This asymptomatic, torpedo- tion to have a temporal macular RPE the equatorial or peripheral fun- shaped defect in the RPE occurs in defect with a pointed-oval shape to- dus, randomly in various quad- the temporal macular region with a ward the foveola and hyperpig- rants, and rarely in the macula (1%).2 pointed, torpedo-like tip directed to- mented rounded temporal margin. Both CHRPE and torpedo macu- Figure 2. Case 2. An 11-year-old girl with torpedo maculopathy in the temporal macular region of the left eye with a pointed-oval shape toward the Figure 1. Case 1. A 3-year-old girl with torpedo maculopathy in the temporal foveola and hyperpigmented, rounded margin temporally. macular region of the right eye with a pointed-oval shape toward the foveola and hyperpigmented “frayed tail” temporally. (REPRINTED) ARCH OPHTHALMOL / VOL 128 (NO. 4), APR 2010 WWW.ARCHOPHTHALMOL.COM 499 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/30/2021 Table. Published Cases of Torpedo Maculopathy Millimeters Distance Sex/ Nasal Temporal to General Fluorescein Systemic Ocular Source Age, y Eye VA Location Shape Margin Margin Foveola Width Height Pigmentation Angiography Associations Associations Roseman and M/12 OS 20/20 Temporal Pointed Sharp Round 0.8 2 1 NP with white deep NA None None Gass,3 1992 macula oval point margin, spots NP Teitlebaum NA OD NA Temporal Pointed Sharp NA 1 2 1 NP Hyper at NP NA NA et al,5 1997 macula oval point NA OS NA Temporal Pointed Sharp NA 0.5 2 1 NP NA NA NA macula oval point Angioï-Duprez F/18 OS 20/25 Temporal Pointed Rounded Round 0 3 1.5 NP Hyper at NP, None None and Maalouf,6 macula oval point margin, hypo at P 2000 linear P Rigotti et al,7 NA OS 20/20 Temporal Pointed Sharp Frayed tail 0.8 3 1 NP Hyper NP, None None 2002a macula oval point spotty P hypo at P NA NA 20/20 Temporal Pointed Sharp Tail presenta NA NA NA NP Hyper at NP, None Choroidal macula oval point hypo at P nevus NA NA 20/20 Temporal Pointed Sharp Tail presenta NA NA NA NP Hyper at NP, None None macula oval point hypo at P Mahieu and NA OS 20/20 Temporal Pointed Sharp Round 0.2 2.5 1 NP Hyper at NP, None None Mathis,8 2003 macula oval point margin, hypo at P round P Current study F/3 OD FϩF Temporal Pointed Sharp Frayed tail 0.2 2 1 NP surrounding NA None None macula oval point linear P “normal” RPE hyperpigmentation F/11 OS 20/20 Temporal Pointed Sharp Round 1 2 1 NP with nasal margin NA None None macula oval point margin white deep spots round P Abbreviations: FϩF, fix and follow; hyper, hyperfluorescent; hypo, hypofluorescent; NA, not available or photographs do not clearly depict feature; NP, nonpigmented; P, pigmented; RPE, retinal pigment epithelium; VA, visual acuity. aIllustrations included only 1 fundus photograph and no fluorescein angiograms. Data are based on clinical description. Exact ages not given, but indicated that there were 1 child and 2 young adults. lopathy are presumed to be congen- alternative configurations that in- those aged 2 months to 74 years. She ital RPE abnormalities, but its ran- clude a “frayed tail” or a rounded noted that the fetal RPE cells in- dom distribution and rounded margin. The frayed tail was com- crease in size from the ora serrata to appearance is unlike torpedo macu- posed of either linear or dotted hy- the macular region. In the macular lopathy. The RPE abnormalities as- perpigmentation and hypopigmen- region, there was a prominent cone- sociated with familial adenomatous tation. The rounded margin was shaped bulge in the temporal pos- polyposis and Gardner syndrome are smooth and composed of either lin- terior pole of the eye approxi- also similar to torpedo maculopa- ear, rounded, or no hyperpigmen- mately 4 mm from the optic disc and thy, but those with familial adeno- tation at the temporal margin. In our centered slightly temporal to the fo- matous polyposis manifest a ran- 2 cases, one showed the frayed tail vea. The bulge was first noted in the dom distribution in the fundus and appearance, whereas the other had 4-month fetus and gradually en- are often much smaller and more ir- a rounded margin. larged to a staphylomatous or scler- regular in shape.1 The etiology of torpedo macu- ectasia appearance by 6 months and In the published cases of tor- lopathy remains speculative and gradually lessened to a 3.5-mm shal- pedo maculopathy and our 2 cur- some have credited abnormal cho- low concavity by 8.5 months. At rent cases, there seems to be simi- roidal development or ciliary vas- term, a “slight residual depression” larities in the clinical features of this culature development leading to the was found 4 mm temporal to the op- condition in that all illustrations localized, nonprogressive RPE le- tic disc, again slightly temporal to the have shown a nonpigmented RPE sion. The uniform location and size fovea. Retinal pigment epithelial cell lesion within the temporal region of this condition points toward a count in the 4-month fetal macula of the macula, ranging from imme- congenital defect at a precise time was 45 per field, and in the tempo- diately underneath the foveola to during fetal development of the RPE. ral bulge there was an unusually high 1 mm from the foveola and approxi- The RPE is derived from the outer RPE count of 70 per field. In com- mately 2 to 3 mm in horizontal di- wall of the optic cup. Full pigmen- parison, the adult macula showed an ameter and 1 mm in vertical diam- tation of the RPE is achieved by the RPE cell count of approximately 30 eter (Table). In all cases, the lesion 10-mm stage (fifth week). In 1969, per field. The dense RPE cellularity was oval with a characteristic point Streeten9 studied fetal RPE develop- in the bulge apex gradually disap- aimed toward the foveola. There ment using 16 fetal eyes at various peared as the bulge matured. Ac- have been notable differences, how- gestational months, 4 eyes from 3 cording to Streeten, the RPE cells in ever, in the temporal aspect with 2 neonates, and 35 pairs of eyes from the bulge concavity were large and (REPRINTED) ARCH OPHTHALMOL / VOL 128 (NO. 4), APR 2010 WWW.ARCHOPHTHALMOL.COM 500 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/30/2021 dividing rapidly. Streeten postu- cago, Illinois (Dr Shapiro); and the 1. Shields JA, Shields CL. Tumors and related le- sions of the pigment epithelium. In: Shields JA, lated that the temporal bulge was de- Retina Institute of North Carolina, Shields CL, eds. Intraocular Tumors: An Atlas and signed to “fully expand the macu- Raleigh (Dr Fogel). Textbook. 2nd ed. Philadelphia, PA: Lippincott lar area by the 8th month gestation.”9 Correspondence: Dr C.
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