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Torpedo maculopathy: Two case reports and a literature review
Maculopatía en torpedo: presentación de 2 casos clínicos y revisión de la literatura
S. de Manuel-Triantafilo
, P. Gili, J. Bañuelos Bañuelos
Corresponding author
Servicio de Oftalmología, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, Spain
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Gili, J. Bañuelos Bañuelos" "autores" => array:3 [ 0 => array:4 [ "nombre" => "S." "apellidos" => "de Manuel-Triantafilo" "email" => array:1 [ 0 => "sofiademanueltriantafilo@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "P." "apellidos" => "Gili" ] 2 => array:2 [ "nombre" => "J." "apellidos" => "Bañuelos Bañuelos" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Oftalmología, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Maculopatía en torpedo: presentación de 2 casos clínicos y revisión de la literatura" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1450 "Ancho" => 1276 "Tamanyo" => 196266 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Color ocular fundus of the 2nd case, i.e., the 25-year-old patient; (A) color photograph. Right eye normal. Left eye showing macular hypopigmented lesion in left eye; (B) autofluorescence image showing hypo-fluorescence lesion temporal to the macula in the left eye; (C) fluorescein angiography showing early and late hyperfluorescence of the lesion.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Torpedo maculopathy is a probably congenital lesion involving the retinal pigment epithelium (RPE). First described in 1957 by Mann, its pathogeny is unknown.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> It is characterized by a macular, asymptomatic and single hypopigmented lesion temporal to the fovea, with a typical torpedo-like shape.</p><p id="par0010" class="elsevierStylePara elsevierViewall">The cases of 2 patients diagnosed with torpedo maculopathy is presented. Funduscopic and optical coherence tomography characteristics are included, together with autofluorescence (AF) and fluorescein angiography (FA) images.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Description of cases</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Clinic case 1</span><p id="par0015" class="elsevierStylePara elsevierViewall">Caucasian male, 4, without relevant personal history (PH), a Snellen visual acuity (VA) of 1 in both eyes (BE) and normal anterior segment examination. The ocular fundus (OF) of the right eye (RE) exhibited a flat lesion temporal to the fovea which was hypopigmented with well defined edges and the tip aiming at the fovea, located at 3.60<span class="elsevierStyleHsp" style=""></span>mm from the papilla (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A). OCT revealed attenuation of the RPE signal (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B). After 3 years follow-up, the patient remains asymptomatic and the lesion continues to be stable (<a class="elsevierStyleCrossRefs" href="#fig0010">Figs. 2 and 3</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Clinic case 2</span><p id="par0020" class="elsevierStylePara elsevierViewall">Caucasian female, 25, without relevant PH, with a Snellen visual acuity of 1 and normal anterior segment examination. LE ocular fundus evidenced a flat, single, oval-shaped macular lesion which was temporal to the fovea, hypopigmented and located at 4.8<span class="elsevierStyleHsp" style=""></span>mm from the papilla, torpedo-shaped with the tip aiming at the fovea. High definition CIRRUS<span class="elsevierStyleSup">®</span> OCT (CIRRUS<span class="elsevierStyleSup">®</span> HD-OCT 4000. Carl Zeiss Meditec Inc., Dublín, CA, USA) evidenced a hyper-reflective space similar to neurosensory detachment, thinning of the photoreceptor layer, the external nuclear layer, the internal retina layers and choroids. The EDI (enhanced depth imaging) program of HD-OCT revealed increased choroidal transmission. Photographs with red and green filters showed a hypo-florescent lesion in early and late stages of FA, without signs of vasculitis or leak points.</p></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conclusions</span><p id="par0025" class="elsevierStylePara elsevierViewall">Torpedo maculopathy is an asymptomatic lesion of probable congenital origin. Several theories have been proposed to explain its pathogeny, including abnormal choroidal development, ciliary vascularization alteration, incomplete fusion of the fetal fissure or the consequence of intrauterine chorioretinitis. During fetal development, the existence of a bulge caused by accumulation of RPE cells located at 4<span class="elsevierStyleHsp" style=""></span>mm of the optic nerve and temporal to the fovea can be appreciated. This condensation of RPE cells progressively diminishes with fetal development. It has been speculated that torpedo-shaped maculopathy, located temporal to the fovea at approximately 4<span class="elsevierStyleHsp" style=""></span>mm from the papilla, with characteristic morphology and size, is a congenital RPE defect at a specific point of fetal development.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> Generally it is a single lesion although satellite lesions and bilateral involvement have been described.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Torpedo maculopathy is also known as RPE solitary hypopigmented nevic lesion, paramacular abiotic point syndrome or atypical paramacular coloboma.</p><p id="par0035" class="elsevierStylePara elsevierViewall">There are no data available on the incidence, prevalence or demographic characteristics of said maculopathy.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Tsang et al. described association with kidney diseases, blepharofimosis, <span class="elsevierStyleItalic">situs inversus</span>, choroidal nevus or ametropia, whereas Shields et al. are of the view that there is no relationship with other systemic diseases.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> Hansen et al. presented a clinic case of a patient with tuberous sclerosis with astrocytic hamartoma and torpedo maculopathy.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">It is important to establish a differential diagnostic with toxoplasma scar, traumatic injury, congenital RPE hypertrophia (rounded and with random distribution), congenital RPE hypertrophia associated to the Gardner syndrome (occasionally multiple and with peripheral distribution), congenital RPE abiotic dots, RPE hamartoma and combined retina-RPE hamartoma benign or acquired melanoma.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> In addition, vitelliform dystrophy or pattern dystrophy, both hyper-autofluorescent. Taking into account the clinical characteristics and the imaging tests, compatible with the torpedo-shaped maculopathy diagnostic, no additional diagnostic tests were performed to discard other conditions.</p><p id="par0050" class="elsevierStylePara elsevierViewall">In the first clinic case, even though the OCT image only shows signal attenuation at the RPE level, the characteristic funduscopic image and normal VA led the authors to consider torpedo maculopathy.</p><p id="par0055" class="elsevierStylePara elsevierViewall">In the 2nd clinic case, OCT showed a hypo-reflective image which is not typical in the torpedo maculopathy. This was described by other authors such as Su et al. as a neurosensory detachment. However, Galchet et al. discarded the presence of subretinal fluid due to the absence of intra-retinal edema and the absence of fluorescein leak in FA.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">To conclude, torpedo maculopathy is an asymptomatic lesion of unknown pathogeny, probably due to alterations in embryo development which is generally diagnosed incidentally in children or young patients. It is important to include said maculopathy in the differential diagnostic of congenital macular lesions. The characteristic image and funduscopic location, negative autofluorescence, FA hyperfluorescence and RPE atrophy with retinal thinning in OCT contribute to the diagnostic.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Conflict of interests</span><p id="par0065" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres693589" "titulo" => "Abstract" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Case reports" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Discussion" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec702584" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres693588" "titulo" => "Resumen" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0015" "titulo" => "Casos clínicos" ] 1 => array:2 [ "identificador" => "abst0020" "titulo" => "Discusión" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec702586" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:3 [ "identificador" => "sec0010" "titulo" => "Description of cases" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0015" "titulo" => "Clinic case 1" ] 1 => array:2 [ "identificador" => "sec0020" "titulo" => "Clinic case 2" ] ] ] 6 => array:2 [ "identificador" => "sec0025" "titulo" => "Conclusions" ] 7 => array:2 [ "identificador" => "sec0030" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2014-10-13" "fechaAceptado" => "2016-01-18" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec702584" "palabras" => array:5 [ 0 => "Macula lutea" 1 => "Retinal pigment epithelium" 2 => "Optical coherence tomography" 3 => "Retina" 4 => "Child" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec702586" "palabras" => array:5 [ 0 => "Mácula lútea" 1 => "Epitelio pigmentario de la retina" 2 => "Tomografía óptica de coherencia" 3 => "Retina" 4 => "Niños" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:3 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Case reports</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The cases concern a 4 year-old boy and 25 year-old female with 20/20 visual acuity, who presented with a unilateral non-pigmented macular lesion, temporal to the fovea, a torpedo shaped defect in the retinal pigment epithelium (RPE). Optical coherence tomography showed attenuation of the RPE signal, and in the second patient there proved to be a neurosensory detachment, RPE atrophy, and thinning of the retinal layers. The lesion was hypoautofluorescent and hyperfluorescent on fluorescein angiography.</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Discussion</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Torpedo maculopathy is an asymptomatic characteristic lesion which should be considered in the differential diagnosis of macular lesions in children and young patients.</p></span>" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Case reports" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Discussion" ] ] ] "es" => array:3 [ "titulo" => "Resumen" "resumen" => "<span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Casos clínicos</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Varón de 4 años y mujer de 25 años, con agudeza visual de 1, que presentaban una lesión macular unilateral, temporal a la fóvea, hipopigmentada, en forma de torpedo. La tomografía óptica de coherencia mostraba atenuación de la señal del epitelio pigmentario (EPR), y en la mujer un desprendimiento neurosensorial, atrofia del EPR y adelgazamiento de las capas retinianas. La lesión era hipoautofluorescente e hiperfluorescente con la angiografía fluoresceínica.</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Discusión</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">La maculopatía en torpedo es una lesión asintomática característica, a considerar en el diagnóstico diferencial de las lesiones maculares en niños o pacientes jóvenes.</p></span>" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0015" "titulo" => "Casos clínicos" ] 1 => array:2 [ "identificador" => "abst0020" "titulo" => "Discusión" ] ] ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: de Manuel-Triantafilo S, Gili P, Bañuelos Bañuelos J. Maculopatía en torpedo: presentación de 2 casos clínicos y revisión de la literatura. Arch Soc Esp Oftalmol. 2016;91:400–403.</p>" ] ] "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 850 "Ancho" => 1279 "Tamanyo" => 200144 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Color ocular fundus of the first case, i.e., the 4-year-old patient. (A) Macular oval-shaped hypopigmented lesion temporal to the fovea in the right eye. Left eye within normality. (B) OCT image showing normality in the macular structure of both eyes.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1450 "Ancho" => 1276 "Tamanyo" => 196266 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Color ocular fundus of the 2nd case, i.e., the 25-year-old patient; (A) color photograph. Right eye normal. Left eye showing macular hypopigmented lesion in left eye; (B) autofluorescence image showing hypo-fluorescence lesion temporal to the macula in the left eye; (C) fluorescein angiography showing early and late hyperfluorescence of the lesion.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1420 "Ancho" => 1500 "Tamanyo" => 307015 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">OCT. (A) Linear, 9<span class="elsevierStyleHsp" style=""></span>mm OCT scan with EDI through the lesion. Neurosensory detachment image with RPE atrophy and thinning of the retinal layers with increased signal transmission through the choroids. (B) Grayscale OCT with more enlargement, showing in greater detail the thinning of the retina layers, with neurosensory retina detachment image and increased transmission through the choroids.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Torpedo maculopathy: in-vivo histology using optical coherence tomography" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "T. Tsang" 1 => "L.V. Messner" 2 => "A. Pilon" 3 => "L. 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Hove" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/aos.12934" "Revista" => array:2 [ "tituloSerie" => "Acta Ophtalmol" "fecha" => "2015" ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0050" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The expanding clinical spectrum of torpedo maculopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "R. Trevino" 1 => "S. 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