Volume 17 Number 6 / December 2013 References 1. Wilson ME. Intraocular lens implantation: has it become the standard of care for children? Ophthalmology 1996;103:1719-20. 2. Jacobi PC, Dietlein TS, Konen W. Multifocal intraocular lens implantation in pediatric cataract surgery. Ophthalmology 2001;108: 1375-80. 3. Rychwalski PJ. Multifocal IOL implantation in children: is the future clear? J Cataract Refract Surg 2010;36:2019-21.
Cullen and Zaborowski
625
4. Cristobal JA, Remon L, Del Buey MA, Montes-Mico R. Multifocal intraocular lenses for unilateral cataract in children. J Cataract Refract Surg 2010;36:2035-40. 5. Trivedi RH, Wilson ME, Bandyopadhyay D. Refractive shift in pseudophakic eyes during the second decade of life. J Cataract Refract Surg 2012;38:102-7. 6. Wilson ME, Trivedi RH, Burger BM. Eye growth in the second decade of life: implications for the implantation of a multifocal intraocular lens. Trans Am Ophthalmol Soc 2009;107:120-24.
A case report of torpedo maculopathy in an African boy Claire Cullen, MB BCh, FCOphth (SA),a and Anthony G. Zaborowski, MB BCh, FCOphth (SA)b
We describe a case report of torpedo maculopathy in a young African boy. Ophthalmic examination revealed normal visual acuity and a characteristic unilateral retinal lesion with the typical appearance on ocular coherence tomographic imaging, fluorescein angiography, and visual fields testing.
T
orpedo maculopathy is a congenital abnormality of the retinal pigment epithelium (RPE), clinically manifesting as an asymptomatic, wellcircumscribed hypopigmented macular lesion temporal to the fovea with a torpedo-like tip directed toward the foveola.1 We describe a case of torpedo maculopathy in a 10-year-old black South African boy.
Case Report A 10-year-old black South African boy presented to the eye clinic at Edendale Hospital, South Africa, for routine ophthalmic assessment after experiencing difficulties with school work. He was asymptomatic and his ocular history was unremarkable. There were no perinatal problems and his development was normal. His medical history was significant for human immunodeficiency virus (HIV), for which he had been undergoing antiretroviral therapy for one year, and for successful treatment of pulmonary
Author affiliations: aDepartment of Ophthalmology, Edendale Hospital, University of Kwazulu-Natal; bDepartment of Ophthalmology, Nelson R. Mandela School of Medicine, University of Kwazulu-Natal, Pietermaritzburg, South Africa Submitted February 20, 2013. Revision accepted July 6, 2013. Published online November 7, 2013. Correspondence: Claire Cullen, MB BCh, FCOphth (SA), 8 Gemini road, Sunward Park, Boksburg 1459, South Africa (email: [email protected]). J AAPOS 2013;17:625-626. Copyright Ó 2013 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.07.009
Journal of AAPOS
FIG 1. A, Fundus photograph of the right eye of a 10-year-old boy diagnosed with torpedo maculopathy showing an oval, hypopigmented macular lesion with a tapered tip pointing towards the foveola. B, Optical coherence tomograph showing a retinal pigment epithelium cleft.
626
Cullen and Zaborowski
tuberculosis 4 years earlier. Currently he was generally healthy. On ophthalmological examination, visual acuity was 20/20 and N5 in both eyes, and color vision on Ishihara plate testing was normal. The anterior segment was normal in both eyes. The posterior segment of the left eye was normal, but the right eye had a sharply demarcated oval, hypopigmented lesion located in the temporal macula with a tip pointing toward the fovea. The lesion appeared to be involving retinal pigment epithelium (RPE) and measured 2 mm horizontally and 1 mm vertically (Figure 1A). There was no sign of HIVassociated eye disease or of previous ocular inflammation. Fluoroscein angiography showed transmission hyperfluorescence and no abnormal leakage or vascularity. No autofluorescence was detected. Humphrey visual field perimetry showed a small scotoma inferotemporal to the macula corresponding to the macular lesion. Optical coherence tomography (OCT) showed subfoveal disruption of the photoreceptor and RPE complex and an associated small subretinal cleft (Figure 1B). An electrooculogram (EOG) was normal.
Discussion In 1992 Roseman and Gass2 described the features of a small, flat, oval-shaped RPE lesion in the temporal macula with a tail pointing toward the fovea and called it a hypopigmented nevus of the RPE; this kind of lesion later became known by the term torpedo maculopathy. It is a rare macular finding, with only a few published cases.1-6 To our knowledge, this is the first case of torpedo maculopthy reported in an African boy. Although previously referred to as a naevus, several features of the lesion suggest a dysfunctional or absent RPE, including the lack of autofluorescence, RPE hyporeflectivity on OCT, and visual field scotomas.3 The etiology is unknown. Pian and colleagues3 have hypothesized that the lesion is a developmental defect in the nerve fiber layer at the horizontal raphe. Others have speculated that the lesion results from a disturbance in the normal development of the choroid or ciliary vasculature.4 Shields and colleagues1 have suggested that the uniform location and size of the lesion indicates a persistent defect in the development of the RPE in the fetal temporal bulge. Torpedo maculopathy is typically an incidental finding. Patients are asymptomatic, with normal visual acuity, although a paracentral scotoma on field perimetry, corresponding to the retinal lesion is well described.3 The diagnosis is made clinically on the basis of the characteristic torpedo-like shape and location of the lesion, temporal to the fovea with a tip pointing toward the foveola. Fluorescein angiography shows a hyperfluorescent transmission or window defect and OCT reveals a diminished RPE signal and a subretinal cleft.4The differential diagnosis includes the following characteristics: congenital hypertrophy of the RPE; congenital albinotic spots; choroidal melanomas and
Volume 17 Number 6 / December 2013 nevi; infective chorioretinal scars, such as toxoplasmosis; atypical Best’s disease; and lesions associated with Gardner’s and familial polyposis syndromes.5 To date there has not been any reported case of loss of visual acuity. Although our patient has a history of successfully treated pulmonary tuberculosis, tuberculosis of the choroid, namely, a choroidal tubercle, has a different clinical presentation and thus was not considered in the differential diagnosis. Coroidal tubercles are yellowish lesions located deep within the choroid. Unlike the lesion in this patient, they have illdefined borders, are typically elevated centrally, associated with poor visual acuity if located in the macula region, and have a raised RPE-choriocapillaris complex on OCT. Following treatment, tubercles form hypopigmented white scars with well-defined pigmented borders, and there is hypereflectivity and “shadowing” of the area of the lesion on OCT.7 Torpedo maculopathy typically remains unchanged over time; however, Sanabria and colleagues suggested that the definite alterations seen on OCT imaging could represent a potential cause for retinal degeneration, which could result in a decrease in vision if the fovea was involved.6 This case highlights the fact that immunocompromised children with multiple pathologies can also manifest rare congenital conditions that must be differentiated from more serious, progressive lesions that require extensive ophthalmic and systemic investigation.
Literature Search The authors searched PubMed without language or date restriction for the following terms: torpedo maculopathy.
Acknowledgments For their help and advice on this case, the authors thank Mr Moin Mohamed, PhD, FRCS, FRCOphth, consultant ophthalmic surgeon, St Thomas’ Hospital London, and Dr. L. Kruger, FRCS(Ed), FCS(SA), FRC OPHTH(UK), MMED, ophthalmologist specialist in vitreoretinal diseases. Dr. A. Burger (private ophthalmologist Pietermaritzburg) kindly provided the OCT image. References 1. Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal “bulge.” Arch Ophthalmol 2010; 128:449-501. 2. Roseman RL, Gass JD. Solitary hypopigmented nevus of the retinal pigment epithelium in the macula. Arch Ophthalmol 1992;110:1358-9. 3. Pian D, Ferrucci S, Anderson SF, Wu C. Paramacular coloboma. Optom Vis Sci 2003;80:556-63. 4. Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ. Torpedo maculopathy. Br J Ophthalmol 2010;94:302-6. 5. Teitelbaum BA, Hachey DL, Messner LV. Torpedo maculopathy. J Am Optom Assoc 1997;68:373-6. 6. Sanabria MR, Coco RM, Sanchidrian M. OCT findings in torpedo maculopathy. Retin Cases Brief Rep 2008;2:109-11. 7. Mehta S. Healing patterns of choroidal tubercles after antitubercular therapy: a photographic and OCT study. J Ophthalmic Inflamm Infect 2012;2:95-7.
Journal of AAPOS
Cullen and Zaborowski
625
4. Cristobal JA, Remon L, Del Buey MA, Montes-Mico R. Multifocal intraocular lenses for unilateral cataract in children. J Cataract Refract Surg 2010;36:2035-40. 5. Trivedi RH, Wilson ME, Bandyopadhyay D. Refractive shift in pseudophakic eyes during the second decade of life. J Cataract Refract Surg 2012;38:102-7. 6. Wilson ME, Trivedi RH, Burger BM. Eye growth in the second decade of life: implications for the implantation of a multifocal intraocular lens. Trans Am Ophthalmol Soc 2009;107:120-24.
A case report of torpedo maculopathy in an African boy Claire Cullen, MB BCh, FCOphth (SA),a and Anthony G. Zaborowski, MB BCh, FCOphth (SA)b
We describe a case report of torpedo maculopathy in a young African boy. Ophthalmic examination revealed normal visual acuity and a characteristic unilateral retinal lesion with the typical appearance on ocular coherence tomographic imaging, fluorescein angiography, and visual fields testing.
T
orpedo maculopathy is a congenital abnormality of the retinal pigment epithelium (RPE), clinically manifesting as an asymptomatic, wellcircumscribed hypopigmented macular lesion temporal to the fovea with a torpedo-like tip directed toward the foveola.1 We describe a case of torpedo maculopathy in a 10-year-old black South African boy.
Case Report A 10-year-old black South African boy presented to the eye clinic at Edendale Hospital, South Africa, for routine ophthalmic assessment after experiencing difficulties with school work. He was asymptomatic and his ocular history was unremarkable. There were no perinatal problems and his development was normal. His medical history was significant for human immunodeficiency virus (HIV), for which he had been undergoing antiretroviral therapy for one year, and for successful treatment of pulmonary
Author affiliations: aDepartment of Ophthalmology, Edendale Hospital, University of Kwazulu-Natal; bDepartment of Ophthalmology, Nelson R. Mandela School of Medicine, University of Kwazulu-Natal, Pietermaritzburg, South Africa Submitted February 20, 2013. Revision accepted July 6, 2013. Published online November 7, 2013. Correspondence: Claire Cullen, MB BCh, FCOphth (SA), 8 Gemini road, Sunward Park, Boksburg 1459, South Africa (email: [email protected]). J AAPOS 2013;17:625-626. Copyright Ó 2013 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.07.009
Journal of AAPOS
FIG 1. A, Fundus photograph of the right eye of a 10-year-old boy diagnosed with torpedo maculopathy showing an oval, hypopigmented macular lesion with a tapered tip pointing towards the foveola. B, Optical coherence tomograph showing a retinal pigment epithelium cleft.
626
Cullen and Zaborowski
tuberculosis 4 years earlier. Currently he was generally healthy. On ophthalmological examination, visual acuity was 20/20 and N5 in both eyes, and color vision on Ishihara plate testing was normal. The anterior segment was normal in both eyes. The posterior segment of the left eye was normal, but the right eye had a sharply demarcated oval, hypopigmented lesion located in the temporal macula with a tip pointing toward the fovea. The lesion appeared to be involving retinal pigment epithelium (RPE) and measured 2 mm horizontally and 1 mm vertically (Figure 1A). There was no sign of HIVassociated eye disease or of previous ocular inflammation. Fluoroscein angiography showed transmission hyperfluorescence and no abnormal leakage or vascularity. No autofluorescence was detected. Humphrey visual field perimetry showed a small scotoma inferotemporal to the macula corresponding to the macular lesion. Optical coherence tomography (OCT) showed subfoveal disruption of the photoreceptor and RPE complex and an associated small subretinal cleft (Figure 1B). An electrooculogram (EOG) was normal.
Discussion In 1992 Roseman and Gass2 described the features of a small, flat, oval-shaped RPE lesion in the temporal macula with a tail pointing toward the fovea and called it a hypopigmented nevus of the RPE; this kind of lesion later became known by the term torpedo maculopathy. It is a rare macular finding, with only a few published cases.1-6 To our knowledge, this is the first case of torpedo maculopthy reported in an African boy. Although previously referred to as a naevus, several features of the lesion suggest a dysfunctional or absent RPE, including the lack of autofluorescence, RPE hyporeflectivity on OCT, and visual field scotomas.3 The etiology is unknown. Pian and colleagues3 have hypothesized that the lesion is a developmental defect in the nerve fiber layer at the horizontal raphe. Others have speculated that the lesion results from a disturbance in the normal development of the choroid or ciliary vasculature.4 Shields and colleagues1 have suggested that the uniform location and size of the lesion indicates a persistent defect in the development of the RPE in the fetal temporal bulge. Torpedo maculopathy is typically an incidental finding. Patients are asymptomatic, with normal visual acuity, although a paracentral scotoma on field perimetry, corresponding to the retinal lesion is well described.3 The diagnosis is made clinically on the basis of the characteristic torpedo-like shape and location of the lesion, temporal to the fovea with a tip pointing toward the foveola. Fluorescein angiography shows a hyperfluorescent transmission or window defect and OCT reveals a diminished RPE signal and a subretinal cleft.4The differential diagnosis includes the following characteristics: congenital hypertrophy of the RPE; congenital albinotic spots; choroidal melanomas and
Volume 17 Number 6 / December 2013 nevi; infective chorioretinal scars, such as toxoplasmosis; atypical Best’s disease; and lesions associated with Gardner’s and familial polyposis syndromes.5 To date there has not been any reported case of loss of visual acuity. Although our patient has a history of successfully treated pulmonary tuberculosis, tuberculosis of the choroid, namely, a choroidal tubercle, has a different clinical presentation and thus was not considered in the differential diagnosis. Coroidal tubercles are yellowish lesions located deep within the choroid. Unlike the lesion in this patient, they have illdefined borders, are typically elevated centrally, associated with poor visual acuity if located in the macula region, and have a raised RPE-choriocapillaris complex on OCT. Following treatment, tubercles form hypopigmented white scars with well-defined pigmented borders, and there is hypereflectivity and “shadowing” of the area of the lesion on OCT.7 Torpedo maculopathy typically remains unchanged over time; however, Sanabria and colleagues suggested that the definite alterations seen on OCT imaging could represent a potential cause for retinal degeneration, which could result in a decrease in vision if the fovea was involved.6 This case highlights the fact that immunocompromised children with multiple pathologies can also manifest rare congenital conditions that must be differentiated from more serious, progressive lesions that require extensive ophthalmic and systemic investigation.
Literature Search The authors searched PubMed without language or date restriction for the following terms: torpedo maculopathy.
Acknowledgments For their help and advice on this case, the authors thank Mr Moin Mohamed, PhD, FRCS, FRCOphth, consultant ophthalmic surgeon, St Thomas’ Hospital London, and Dr. L. Kruger, FRCS(Ed), FCS(SA), FRC OPHTH(UK), MMED, ophthalmologist specialist in vitreoretinal diseases. Dr. A. Burger (private ophthalmologist Pietermaritzburg) kindly provided the OCT image. References 1. Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal “bulge.” Arch Ophthalmol 2010; 128:449-501. 2. Roseman RL, Gass JD. Solitary hypopigmented nevus of the retinal pigment epithelium in the macula. Arch Ophthalmol 1992;110:1358-9. 3. Pian D, Ferrucci S, Anderson SF, Wu C. Paramacular coloboma. Optom Vis Sci 2003;80:556-63. 4. Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ. Torpedo maculopathy. Br J Ophthalmol 2010;94:302-6. 5. Teitelbaum BA, Hachey DL, Messner LV. Torpedo maculopathy. J Am Optom Assoc 1997;68:373-6. 6. Sanabria MR, Coco RM, Sanchidrian M. OCT findings in torpedo maculopathy. Retin Cases Brief Rep 2008;2:109-11. 7. Mehta S. Healing patterns of choroidal tubercles after antitubercular therapy: a photographic and OCT study. J Ophthalmic Inflamm Infect 2012;2:95-7.
Journal of AAPOS
