- Email: [email protected]
Pseudo-vitelliform maculopathy and bilateral choroidal folds: Differential diagnosis
a r c h s o c e s p o f t a l m o l . 2 0 1 2;8 7(6):187–190
ARCHIVOS DE LA SOCIEDAD ESPAÑOLA DE OFTALMOLOGÍA www.elsevier.es/oftalmologia
Short communication
Pseudo-vitelliform maculopathy and bilateral choroidal folds: Differential diagnosis夽 ˜ ∗ , L. Cabrejas-Martínez, D. Losada-Bayo M.A. Pardo-Munoz Sección de Retina, Servicio de Oftalmología, Hospital Universitario Ramón y Cajal, Madrid, Spain
a r t i c l e
i n f o
a b s t r a c t
Article history:
Clinical case: A 64-year-old woman. Best corrected acuity right eye (RE) 0.5 and 0.7 left eye (LE).
Received 8 October 2010
Bilateral pseudophakia. No inflammatory signs. Normal IOP. RE fundus showed a rounded,
Accepted 12 September 2011
yellow and excessive subfoveal deposit with positive autofluorescence. Multiple equatorial
Available online 28 September 2012
drusen and choroidal folds in both eyes. Fluorescein angiography of RE showed early foveal
Keywords:
hyperreflective deposit over the foveal epithelium pigment. Visual fields, ocular ultrasounds
hypofluorescence and delayed hyperfluorescence. Optical coherence tomography revealed a Vitelliform maculopathy
and electrooculograms (EOGs) were normal. Non-specific alterations in color tests.
Choroidal folds
Conclusion: Vitelliform maculopathy and choroidal folds are very rare diseases and, excep-
Macular degeneration
tionally, both appear together.
Drusen
© 2010 Sociedad Española de Oftalmología. Published by Elsevier España, S.L. All rights reserved.
Maculopatía pseudoviteliforme asociada a pliegues coroideos bilaterales. Diagnóstico diferencial r e s u m e n Palabras clave:
˜ Caso clínico: Mujer de 64 anos, agudeza visual en ojo derecho (OD) 0,5 y 0,7 en ojo izquierdo
Maculopatía viteliforme
(OI). Pseudofaquia bilateral. No signos inflamatorios. PIO normal. Funduscopicamente en
Pliegues coroideos
la retinografía el OD evidencia un depósito subfoveal amarillento, redondeado, sobreele-
Degeneración macular
vado y autofluorescente. Abundantes drusas ecuatoriales y pliegues coroideos bilaterales. En
Drusas
angiofluoresceinografía, el OD muestra hipofluorescencia foveal inicial con hipercaptación tardía. La tomografía de coherencia óptica muestra un depósito hiperrefringente sobre epitelio pigmentario foveal. Campos visuales, ecografías oculares y electrooculogramas: normales. Alteración inespecífica del test de colores. Conclusión: Las distrofias maculares viteliformes y los pliegues coroideos son entidades poco frecuentes y su asociación es excepcional. © 2010 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L. Todos los derechos reservados.
夽
˜ Please cite this article as: Pardo-Munoz MA, et al. Maculopatía pseudoviteliforme asociada a pliegues coroideos bilaterales. Diagnóstico diferencial. Arch Soc Esp Oftalmol. 2012;87:187–90. ∗ Corresponding author. ˜ E-mail address: [email protected] (M.A. Pardo-Munoz). 2173-5794/$ – see front matter © 2010 Sociedad Española de Oftalmología. Published by Elsevier España, S.L. All rights reserved.
188
a r c h s o c e s p o f t a l m o l . 2 0 1 2;8 7(6):187–190
Introduction Vitelliform macular dystrophies are infrequent hereditary disorders, but their association to bilateral choroidal folds is highly unusual. A case report is presented in which an additional local or general underlying disorder was discarded.
Case report Female, 64, without personal or familial antecedents of interest, who visited the practice because after bilateral cataract surgery one year back without surgical complications she did not notice significant improvement in the visual acuity (VA) of her RE. Best corrected VA in RE was of 0.5 and 0.7 in LE. Anterior pole exploration revealed bilateral pseudophakia, endosacular intraocular lenses with transparent posterior capsule. Intraocular pressure (IOP) was of 14 mmHg without ocular or orbitary inflammatory signs, ocular motility was normal and the patient did not refer ocular pain. At the funduscopic level, the RE evidenced a yellowishorange roundish and raised subfoveal deposit comprising
2/3 of the papillary diameter with abundant equatorial hard drusen in BE with choroidal folds in the posterior pole (Fig. 1). Red-free light retinography revealed autofluorescence of the vitelliform macular deposit of the RE and the drusen in BE (Fig. 2). Fluorescein angiography (FA) showed hyperfluorescence of drusen in BE and of the choroidal folds. In the RE, the macula exhibited initial hypofluorescence without leaks with late contrast hyper-capture in the fovea (Fig. 3). Optic coherence tomography (OCT) revealed a hyperrefringent deposit over the foveal retina pigment epithelium (RPE) of the RE (Fig. 4). Campimetric measurements were within normal ranges. The Farnsworth-Munsell 100 color test evidenced nonspecific alterations in the 3 axes, with 498 errors in RE and 396 in LE (Fig. 5). EOG revealed normal Arden indices in RE and LE de 3.08 and 3.36 respectively. The axial anteroposterior length was of 21.8 mm in RE and 22.17 mm in LE. Ocular echographies did not reveal pathological alterations (Fig. 6). After a follow-up of 4 years, the subfoveal roundish lesion of the RE progressively increased in size and reached the size of the papillary diameter without undergoing changes in color or thickness (378 m). VA slightly diminished to 0.3 in RE while maintaining 0.7 in LE. The bilateral choroidal folds
Fig. 1 – Right eye fundus: raised yellow-orange sub foveal deposit, with abundant equatorial hard drusen. Left eye fundus exhibits abundant equatorial hard drusen. Choroidal folds in the posterior pole in both eyes.
Fig. 2 – Ocular fundus with red-free light: macular autofluorescence in right eye and of drusen in both eyes.
a r c h s o c e s p o f t a l m o l . 2 0 1 2;8 7(6):187–190
189
Fig. 3 – Fluorescein angiography: hyperfluorescence of drusen and choroidal folds in both eyes without contrast leak although with late capture of right eye subfoveal deposit.
and drusen did not undergo changes. No associated systemic involvement occurred.
Discussion Funduscopic findings lead to a differential diagnostic between the following disorders: adult vitelliform macular dystrophy, Best disease, confluent drusen, central serous chorioretinopathy (CSC) and the causes of the choroidal folds. Supplementary tests are essential for this diagnostic. Adult vitelliform macular dystrophy generally debuts between the third and fifth decade of life, with a slight VA reduction. The funduscopic image can match that of the RE of our case and it is frequently associated to drusen.1 In addition, it exhibits autofluorescence compatible with lipofuscin2 of the vitelliform deposit,3 OCT hyper-refringence and normal EOG. In the early phase of FA, marked hypofluorescence of the late stages of the angiogram. Generally, adult vitelliform dystrophy involvement is bilateral although unilateral cases have been described. The color tests generally obtain scores below 400 errors. This case could be a unilateral Best disease, although its expression in earlier periods of life and severely depressed EOG even in stages prior to macular involvement discard this possibility. It could also be a deposit of confluent soft drusen in the context of ARMD. This diagnostic would be supported by the presence of drusen in both eyes. In addition, drusen are autofluorescent, but confluent drusen give a different image
in OCT. FA discarded the presence of choroidal neovascular membranes. Even though CSC is cloudy, even more so when it is liquid, it can give a macular image which is very similar to that observed in this case and it usually debuts in younger patients. In addition, in the OCT the liquid under the neurosensory retina or the RPE is usually hypo-refringent, in contrast with what was observed in this case. Finally, we have discarded processes that could course with choroidal folds, such as ocular hypotony, hypermetropia, retrobulbar masses and globe compression, scleritis, thyroid disease, orbitary pseudotumor, orbitary cellulite or intracranial hypertension.4 The ocular fundus and ocular echography discarded the presence of tumor and/or choroidal detachment. OCT is able to differentiate between choroidal and
Fig. 4 – Optic coherence tomography: hyper-refringent deposit over right eye foveal pigmented epithelium.
190
a r c h s o c e s p o f t a l m o l . 2 0 1 2;8 7(6):187–190
Farnsworth-Munsell 100 Hue Test RE
LE
Tritan
Farnsworth-Munsell 100 Hue Test Tritan
Deutan
Deutan
Protan
Protan
Fig. 5 – Farnsworth-Munsell 100 color test exhibits nonspecific alterations in the three axes, with 488 errors in the right eye and 396 in the left eye respectively.
Fig. 6 – Normal ocular echography. Axial length is normal without increased choroidal thickness.
chorioretinal folds.5 The result was that we accepted the diagnostic of idiopathic or congenital choroidal folds.
2.
Conflict of interests No conflict of interests has been declared by the authors.
references
1. Querques G, Bux A, Prato R, Iaculli Souied E, Noci N. Correlation of visual function impairment and optical coherence tomography findings in patients with adult-onset
3. 4.
5.
foveomacular vitelliform macular dystrophy. Am J Opthalmol. 2008;146:135–42. Vaclavik V, Kenneth G, Msurg Bird AC, Robson A, Holder G, Webster A. Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy. Arch Ophthalmol. 2007;125:274–7. Spaide R. Autofluorescence from the outer retina and subretinal space: hypothesis and review. Retina. 2008;28:5–35. Lavinsky J, Lavinsky D, Lavinsky F, Frutuoso A. Acquired choroidal folds: a sign of idiopathic intracranial hypertension. Graefes Arch Clin Exp Ophthalmol. 2007;245:883–8 [Epub 2006 Nov 22]. Giuffr G, Distefano MG. Optical coherence tomography of chorioretinal and choroidal folds. Acta Ophthalmol Scand. 2007;85:333–6.
ARCHIVOS DE LA SOCIEDAD ESPAÑOLA DE OFTALMOLOGÍA www.elsevier.es/oftalmologia
Short communication
Pseudo-vitelliform maculopathy and bilateral choroidal folds: Differential diagnosis夽 ˜ ∗ , L. Cabrejas-Martínez, D. Losada-Bayo M.A. Pardo-Munoz Sección de Retina, Servicio de Oftalmología, Hospital Universitario Ramón y Cajal, Madrid, Spain
a r t i c l e
i n f o
a b s t r a c t
Article history:
Clinical case: A 64-year-old woman. Best corrected acuity right eye (RE) 0.5 and 0.7 left eye (LE).
Received 8 October 2010
Bilateral pseudophakia. No inflammatory signs. Normal IOP. RE fundus showed a rounded,
Accepted 12 September 2011
yellow and excessive subfoveal deposit with positive autofluorescence. Multiple equatorial
Available online 28 September 2012
drusen and choroidal folds in both eyes. Fluorescein angiography of RE showed early foveal
Keywords:
hyperreflective deposit over the foveal epithelium pigment. Visual fields, ocular ultrasounds
hypofluorescence and delayed hyperfluorescence. Optical coherence tomography revealed a Vitelliform maculopathy
and electrooculograms (EOGs) were normal. Non-specific alterations in color tests.
Choroidal folds
Conclusion: Vitelliform maculopathy and choroidal folds are very rare diseases and, excep-
Macular degeneration
tionally, both appear together.
Drusen
© 2010 Sociedad Española de Oftalmología. Published by Elsevier España, S.L. All rights reserved.
Maculopatía pseudoviteliforme asociada a pliegues coroideos bilaterales. Diagnóstico diferencial r e s u m e n Palabras clave:
˜ Caso clínico: Mujer de 64 anos, agudeza visual en ojo derecho (OD) 0,5 y 0,7 en ojo izquierdo
Maculopatía viteliforme
(OI). Pseudofaquia bilateral. No signos inflamatorios. PIO normal. Funduscopicamente en
Pliegues coroideos
la retinografía el OD evidencia un depósito subfoveal amarillento, redondeado, sobreele-
Degeneración macular
vado y autofluorescente. Abundantes drusas ecuatoriales y pliegues coroideos bilaterales. En
Drusas
angiofluoresceinografía, el OD muestra hipofluorescencia foveal inicial con hipercaptación tardía. La tomografía de coherencia óptica muestra un depósito hiperrefringente sobre epitelio pigmentario foveal. Campos visuales, ecografías oculares y electrooculogramas: normales. Alteración inespecífica del test de colores. Conclusión: Las distrofias maculares viteliformes y los pliegues coroideos son entidades poco frecuentes y su asociación es excepcional. © 2010 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L. Todos los derechos reservados.
夽
˜ Please cite this article as: Pardo-Munoz MA, et al. Maculopatía pseudoviteliforme asociada a pliegues coroideos bilaterales. Diagnóstico diferencial. Arch Soc Esp Oftalmol. 2012;87:187–90. ∗ Corresponding author. ˜ E-mail address: [email protected] (M.A. Pardo-Munoz). 2173-5794/$ – see front matter © 2010 Sociedad Española de Oftalmología. Published by Elsevier España, S.L. All rights reserved.
188
a r c h s o c e s p o f t a l m o l . 2 0 1 2;8 7(6):187–190
Introduction Vitelliform macular dystrophies are infrequent hereditary disorders, but their association to bilateral choroidal folds is highly unusual. A case report is presented in which an additional local or general underlying disorder was discarded.
Case report Female, 64, without personal or familial antecedents of interest, who visited the practice because after bilateral cataract surgery one year back without surgical complications she did not notice significant improvement in the visual acuity (VA) of her RE. Best corrected VA in RE was of 0.5 and 0.7 in LE. Anterior pole exploration revealed bilateral pseudophakia, endosacular intraocular lenses with transparent posterior capsule. Intraocular pressure (IOP) was of 14 mmHg without ocular or orbitary inflammatory signs, ocular motility was normal and the patient did not refer ocular pain. At the funduscopic level, the RE evidenced a yellowishorange roundish and raised subfoveal deposit comprising
2/3 of the papillary diameter with abundant equatorial hard drusen in BE with choroidal folds in the posterior pole (Fig. 1). Red-free light retinography revealed autofluorescence of the vitelliform macular deposit of the RE and the drusen in BE (Fig. 2). Fluorescein angiography (FA) showed hyperfluorescence of drusen in BE and of the choroidal folds. In the RE, the macula exhibited initial hypofluorescence without leaks with late contrast hyper-capture in the fovea (Fig. 3). Optic coherence tomography (OCT) revealed a hyperrefringent deposit over the foveal retina pigment epithelium (RPE) of the RE (Fig. 4). Campimetric measurements were within normal ranges. The Farnsworth-Munsell 100 color test evidenced nonspecific alterations in the 3 axes, with 498 errors in RE and 396 in LE (Fig. 5). EOG revealed normal Arden indices in RE and LE de 3.08 and 3.36 respectively. The axial anteroposterior length was of 21.8 mm in RE and 22.17 mm in LE. Ocular echographies did not reveal pathological alterations (Fig. 6). After a follow-up of 4 years, the subfoveal roundish lesion of the RE progressively increased in size and reached the size of the papillary diameter without undergoing changes in color or thickness (378 m). VA slightly diminished to 0.3 in RE while maintaining 0.7 in LE. The bilateral choroidal folds
Fig. 1 – Right eye fundus: raised yellow-orange sub foveal deposit, with abundant equatorial hard drusen. Left eye fundus exhibits abundant equatorial hard drusen. Choroidal folds in the posterior pole in both eyes.
Fig. 2 – Ocular fundus with red-free light: macular autofluorescence in right eye and of drusen in both eyes.
a r c h s o c e s p o f t a l m o l . 2 0 1 2;8 7(6):187–190
189
Fig. 3 – Fluorescein angiography: hyperfluorescence of drusen and choroidal folds in both eyes without contrast leak although with late capture of right eye subfoveal deposit.
and drusen did not undergo changes. No associated systemic involvement occurred.
Discussion Funduscopic findings lead to a differential diagnostic between the following disorders: adult vitelliform macular dystrophy, Best disease, confluent drusen, central serous chorioretinopathy (CSC) and the causes of the choroidal folds. Supplementary tests are essential for this diagnostic. Adult vitelliform macular dystrophy generally debuts between the third and fifth decade of life, with a slight VA reduction. The funduscopic image can match that of the RE of our case and it is frequently associated to drusen.1 In addition, it exhibits autofluorescence compatible with lipofuscin2 of the vitelliform deposit,3 OCT hyper-refringence and normal EOG. In the early phase of FA, marked hypofluorescence of the late stages of the angiogram. Generally, adult vitelliform dystrophy involvement is bilateral although unilateral cases have been described. The color tests generally obtain scores below 400 errors. This case could be a unilateral Best disease, although its expression in earlier periods of life and severely depressed EOG even in stages prior to macular involvement discard this possibility. It could also be a deposit of confluent soft drusen in the context of ARMD. This diagnostic would be supported by the presence of drusen in both eyes. In addition, drusen are autofluorescent, but confluent drusen give a different image
in OCT. FA discarded the presence of choroidal neovascular membranes. Even though CSC is cloudy, even more so when it is liquid, it can give a macular image which is very similar to that observed in this case and it usually debuts in younger patients. In addition, in the OCT the liquid under the neurosensory retina or the RPE is usually hypo-refringent, in contrast with what was observed in this case. Finally, we have discarded processes that could course with choroidal folds, such as ocular hypotony, hypermetropia, retrobulbar masses and globe compression, scleritis, thyroid disease, orbitary pseudotumor, orbitary cellulite or intracranial hypertension.4 The ocular fundus and ocular echography discarded the presence of tumor and/or choroidal detachment. OCT is able to differentiate between choroidal and
Fig. 4 – Optic coherence tomography: hyper-refringent deposit over right eye foveal pigmented epithelium.
190
a r c h s o c e s p o f t a l m o l . 2 0 1 2;8 7(6):187–190
Farnsworth-Munsell 100 Hue Test RE
LE
Tritan
Farnsworth-Munsell 100 Hue Test Tritan
Deutan
Deutan
Protan
Protan
Fig. 5 – Farnsworth-Munsell 100 color test exhibits nonspecific alterations in the three axes, with 488 errors in the right eye and 396 in the left eye respectively.
Fig. 6 – Normal ocular echography. Axial length is normal without increased choroidal thickness.
chorioretinal folds.5 The result was that we accepted the diagnostic of idiopathic or congenital choroidal folds.
2.
Conflict of interests No conflict of interests has been declared by the authors.
references
1. Querques G, Bux A, Prato R, Iaculli Souied E, Noci N. Correlation of visual function impairment and optical coherence tomography findings in patients with adult-onset
3. 4.
5.
foveomacular vitelliform macular dystrophy. Am J Opthalmol. 2008;146:135–42. Vaclavik V, Kenneth G, Msurg Bird AC, Robson A, Holder G, Webster A. Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy. Arch Ophthalmol. 2007;125:274–7. Spaide R. Autofluorescence from the outer retina and subretinal space: hypothesis and review. Retina. 2008;28:5–35. Lavinsky J, Lavinsky D, Lavinsky F, Frutuoso A. Acquired choroidal folds: a sign of idiopathic intracranial hypertension. Graefes Arch Clin Exp Ophthalmol. 2007;245:883–8 [Epub 2006 Nov 22]. Giuffr G, Distefano MG. Optical coherence tomography of chorioretinal and choroidal folds. Acta Ophthalmol Scand. 2007;85:333–6.