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Torpedo maculopathy: Two case reports and a literature review
ARTICLE IN PRESS a r c h s o c e s p o f t a l m o l . 2 0 1 6;x x x(x x):xxx–xxx
ARCHIVOS DE LA SOCIEDAD ESPAÑOLA DE OFTALMOLOGÍA www.elsevier.es/oftalmologia
Short communication
Torpedo maculopathy: Two case reports and a literature review夽 ˜ ˜ S. de Manuel-Triantafilo ∗ , P. Gili, J. Banuelos Banuelos Servicio de Oftalmología, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, Spain
a r t i c l e
i n f o
a b s t r a c t
Article history:
Case reports: The cases concern a 4 year-old boy and 25 year-old female with 20/20 visual
Received 13 October 2014
acuity, who presented with a unilateral non-pigmented macular lesion, temporal to the
Accepted 18 January 2016
fovea, a torpedo shaped defect in the retinal pigment epithelium (RPE). Optical coherence
Available online xxx
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
Keywords:
was hypoautofluorescent and hyperfluorescent on fluorescein angiography.
Macula lutea
Discussion: Torpedo maculopathy is an asymptomatic characteristic lesion which should be
Retinal pigment epithelium
considered in the differential diagnosis of macular lesions in children and young patients.
Optical coherence tomography
˜ de Oftalmología. Published by Elsevier España, S.L.U. All rights © 2016 Sociedad Espanola reserved.
Retina Child
Maculopatía en torpedo: presentación de 2 casos clínicos y revisión de la literatura r e s u m e n Palabras clave:
˜ ˜ Casos clínicos: Varón de 4 anos y mujer de 25 anos, con agudeza visual de 1, que pre-
Mácula lútea
sentaban una lesión macular unilateral, temporal a la fóvea, hipopigmentada, en forma
Epitelio pigmentario de la retina
˜ del epitelio de torpedo. La tomografía óptica de coherencia mostraba atenuación de la senal
Tomografía óptica de coherencia
pigmentario (EPR), y en la mujer un desprendimiento neurosensorial, atrofia del EPR y adel-
Retina
gazamiento de las capas retinianas. La lesión era hipoautofluorescente e hiperfluorescente
˜ Ninos
con la angiografía fluoresceínica. Discusión: La maculopatía en torpedo es una lesión asintomática característica, a considerar ˜ en el diagnóstico diferencial de las lesiones maculares en ninos o pacientes jóvenes. ˜ © 2016 Sociedad Espanola de Oftalmología. Publicado por Elsevier España, S.L.U. Todos los derechos reservados.
夽 ˜ ˜ Please cite this article as: de Manuel-Triantafilo S, Gili P, Banuelos Banuelos J. Maculopatía en torpedo: presentación de 2 casos clínicos y revisión de la literatura. Arch Soc Esp Oftalmol. 2016. http://dx.doi.org/10.1016/j.oftal.2016.01.028 ∗ Corresponding author. E-mail address: sofiademanueltriantafi[email protected] (S. de Manuel-Triantafilo). ˜ 2173-5794/© 2016 Sociedad Espanola de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.
OFTALE-977; No. of Pages 4
ARTICLE IN PRESS 2
a r c h s o c e s p o f t a l m o l . 2 0 1 6;x x x(x x):xxx–xxx
Fig. 1 – 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.
Fig. 2 – 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.
ARTICLE IN PRESS a r c h s o c e s p o f t a l m o l . 2 0 1 6;x x x(x x):xxx–xxx
Introduction Torpedo maculopathy is a probably congenital lesion involving the retinal pigment epithelium (RPE). First described in 1957 by Mann, its pathogeny is unknown.1 It is characterized by a macular, asymptomatic and single hypopigmented lesion temporal to the fovea, with a typical torpedo-like shape. 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.
Description of cases Clinic case 1 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
3
edges and the tip aiming at the fovea, located at 3.60 mm from the papilla (Fig. 1A). OCT revealed attenuation of the RPE signal (Fig. 1B). After 3 years follow-up, the patient remains asymptomatic and the lesion continues to be stable (Figs. 2 and 3).
Clinic case 2 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 mm from the papilla, torpedo-shaped with the tip aiming at the fovea. High definition CIRRUS® OCT (CIRRUS® 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 HDOCT 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.
Fig. 3 – OCT. (A) Linear, 9 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.
ARTICLE IN PRESS 4
a r c h s o c e s p o f t a l m o l . 2 0 1 6;x x x(x x):xxx–xxx
Conclusions 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 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 mm from the papilla, with characteristic morphology and size, is a congenital RPE defect at a specific point of fetal development.2 Generally it is a single lesion although satellite lesions and bilateral involvement have been described.1 Torpedo maculopathy is also known as RPE solitary hypopigmented nevic lesion, paramacular abiotic point syndrome or atypical paramacular coloboma. There are no data available on the incidence, prevalence or demographic characteristics of said maculopathy.3 Tsang et al. described association with kidney diseases, blepharofimosis, situs inversus, choroidal nevus or ametropia, whereas Shields et al. are of the view that there is no relationship with other systemic diseases.2 Hansen et al. presented a clinic case of a patient with tuberous sclerosis with astrocytic hamartoma and torpedo maculopathy.4 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.3 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.
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. 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.5 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.
Conflict of interests No conflict of interests was declared by the authors.
references
1. Tsang T, Messner LV, Pilon A, Lombardi L. Torpedo maculopathy: in-vivo histology using optical coherence tomography. Optom Vis Sci. 2009;86:E1380–5. 2. Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal bulge. Arch Ophthalmol. 2010;128:499–501. 3. Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ. Torpedo maculopathy. Br J Ophthalmol. 2010;94:302–6. 4. Hansen MS, Larsen M, Hove MN. Optical coherence tomography of torpedo maculopathy in a patient with tuberous sclerosis. Acta Ophtalmol. 2015, http://dx.doi.org/10.1111/aos.12934 [Epub ahead of print]. 5. Trevino R, Kiani S, Raveendranathan. The expanding clinical spectrum of torpedo maculopathy. Optom Vis Sci. 2014;91 Suppl. 1:S71–8.
ARCHIVOS DE LA SOCIEDAD ESPAÑOLA DE OFTALMOLOGÍA www.elsevier.es/oftalmologia
Short communication
Torpedo maculopathy: Two case reports and a literature review夽 ˜ ˜ S. de Manuel-Triantafilo ∗ , P. Gili, J. Banuelos Banuelos Servicio de Oftalmología, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, Spain
a r t i c l e
i n f o
a b s t r a c t
Article history:
Case reports: The cases concern a 4 year-old boy and 25 year-old female with 20/20 visual
Received 13 October 2014
acuity, who presented with a unilateral non-pigmented macular lesion, temporal to the
Accepted 18 January 2016
fovea, a torpedo shaped defect in the retinal pigment epithelium (RPE). Optical coherence
Available online xxx
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
Keywords:
was hypoautofluorescent and hyperfluorescent on fluorescein angiography.
Macula lutea
Discussion: Torpedo maculopathy is an asymptomatic characteristic lesion which should be
Retinal pigment epithelium
considered in the differential diagnosis of macular lesions in children and young patients.
Optical coherence tomography
˜ de Oftalmología. Published by Elsevier España, S.L.U. All rights © 2016 Sociedad Espanola reserved.
Retina Child
Maculopatía en torpedo: presentación de 2 casos clínicos y revisión de la literatura r e s u m e n Palabras clave:
˜ ˜ Casos clínicos: Varón de 4 anos y mujer de 25 anos, con agudeza visual de 1, que pre-
Mácula lútea
sentaban una lesión macular unilateral, temporal a la fóvea, hipopigmentada, en forma
Epitelio pigmentario de la retina
˜ del epitelio de torpedo. La tomografía óptica de coherencia mostraba atenuación de la senal
Tomografía óptica de coherencia
pigmentario (EPR), y en la mujer un desprendimiento neurosensorial, atrofia del EPR y adel-
Retina
gazamiento de las capas retinianas. La lesión era hipoautofluorescente e hiperfluorescente
˜ Ninos
con la angiografía fluoresceínica. Discusión: La maculopatía en torpedo es una lesión asintomática característica, a considerar ˜ en el diagnóstico diferencial de las lesiones maculares en ninos o pacientes jóvenes. ˜ © 2016 Sociedad Espanola de Oftalmología. Publicado por Elsevier España, S.L.U. Todos los derechos reservados.
夽 ˜ ˜ Please cite this article as: de Manuel-Triantafilo S, Gili P, Banuelos Banuelos J. Maculopatía en torpedo: presentación de 2 casos clínicos y revisión de la literatura. Arch Soc Esp Oftalmol. 2016. http://dx.doi.org/10.1016/j.oftal.2016.01.028 ∗ Corresponding author. E-mail address: sofiademanueltriantafi[email protected] (S. de Manuel-Triantafilo). ˜ 2173-5794/© 2016 Sociedad Espanola de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.
OFTALE-977; No. of Pages 4
ARTICLE IN PRESS 2
a r c h s o c e s p o f t a l m o l . 2 0 1 6;x x x(x x):xxx–xxx
Fig. 1 – 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.
Fig. 2 – 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.
ARTICLE IN PRESS a r c h s o c e s p o f t a l m o l . 2 0 1 6;x x x(x x):xxx–xxx
Introduction Torpedo maculopathy is a probably congenital lesion involving the retinal pigment epithelium (RPE). First described in 1957 by Mann, its pathogeny is unknown.1 It is characterized by a macular, asymptomatic and single hypopigmented lesion temporal to the fovea, with a typical torpedo-like shape. 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.
Description of cases Clinic case 1 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
3
edges and the tip aiming at the fovea, located at 3.60 mm from the papilla (Fig. 1A). OCT revealed attenuation of the RPE signal (Fig. 1B). After 3 years follow-up, the patient remains asymptomatic and the lesion continues to be stable (Figs. 2 and 3).
Clinic case 2 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 mm from the papilla, torpedo-shaped with the tip aiming at the fovea. High definition CIRRUS® OCT (CIRRUS® 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 HDOCT 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.
Fig. 3 – OCT. (A) Linear, 9 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.
ARTICLE IN PRESS 4
a r c h s o c e s p o f t a l m o l . 2 0 1 6;x x x(x x):xxx–xxx
Conclusions 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 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 mm from the papilla, with characteristic morphology and size, is a congenital RPE defect at a specific point of fetal development.2 Generally it is a single lesion although satellite lesions and bilateral involvement have been described.1 Torpedo maculopathy is also known as RPE solitary hypopigmented nevic lesion, paramacular abiotic point syndrome or atypical paramacular coloboma. There are no data available on the incidence, prevalence or demographic characteristics of said maculopathy.3 Tsang et al. described association with kidney diseases, blepharofimosis, situs inversus, choroidal nevus or ametropia, whereas Shields et al. are of the view that there is no relationship with other systemic diseases.2 Hansen et al. presented a clinic case of a patient with tuberous sclerosis with astrocytic hamartoma and torpedo maculopathy.4 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.3 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.
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. 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.5 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.
Conflict of interests No conflict of interests was declared by the authors.
references
1. Tsang T, Messner LV, Pilon A, Lombardi L. Torpedo maculopathy: in-vivo histology using optical coherence tomography. Optom Vis Sci. 2009;86:E1380–5. 2. Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal bulge. Arch Ophthalmol. 2010;128:499–501. 3. Golchet PR, Jampol LM, Mathura JR Jr, Daily MJ. Torpedo maculopathy. Br J Ophthalmol. 2010;94:302–6. 4. Hansen MS, Larsen M, Hove MN. Optical coherence tomography of torpedo maculopathy in a patient with tuberous sclerosis. Acta Ophtalmol. 2015, http://dx.doi.org/10.1111/aos.12934 [Epub ahead of print]. 5. Trevino R, Kiani S, Raveendranathan. The expanding clinical spectrum of torpedo maculopathy. Optom Vis Sci. 2014;91 Suppl. 1:S71–8.