Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report

María Camila Sierra-Cote; Juliana Muñoz-Ortiz; Juan Sebastián Botero-Meneses; Carolina Saldarriaga-Santos; Natalia Camacho; William Rojas-Carabali; Alejandra de-la-Torre

doi:10.1080/13816810.2022.2068039

Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report

Título traducido de la contribución: Oclusión de la arteria central de la retina y posterior amaurosis fugax en el ojo contralateral asociada a la variante G20210A del gen de la protrombina (F2): informe de un caso.

María Camila Sierra-Cote, Juliana Muñoz-Ortiz, Juan Sebastián Botero-Meneses, Carolina Saldarriaga-Santos, Natalia Camacho, William Rojas-Carabali, Alejandra de-la-Torre

Producción científica: Contribución a una revista › Artículo de Investigación › revisión exhaustiva

Resumen

Objetivo: Comunicar el caso de una paciente con antecedentes de oclusión de la arteria central de la retina en el ojo derecho y amaurosis fugax asociada a cambios isquémicos agudos en el ojo izquierdo relacionados con una variante del gen de la protrombina G20210A, en la que se utilizó la OCT-A como herramienta diagnóstica y terapéutica. Presentación del caso: Mujer de 55 años con antecedentes de oclusión de la arteria central de la retina en el ojo derecho y diagnóstico de variante del gen de la protrombina G20210A (F2). Acudió a nuestra consulta con amaurosis fugax en el ojo izquierdo. Como antecedentes médicos, presentaba un episodio de escleritis posterior bilateral diagnosticado de forma asincrónica con el episodio actual. Se descartaron enfermedades vasculares, autoinmunes y metabólicas protrombóticas. La OCT-A mostró áreas sugestivas de isquemia aguda compatibles con retinopatía macular en el ojo izquierdo. Se inició tratamiento anticoagulante con Apixaban, teniendo en cuenta el riesgo para su visión. La OCT-A de control mostró una mejoría de la perfusión en el lugar previo del evento vascular oclusivo. También consideramos la extensión de la respuesta inflamatoria debida a escleritis posterior como diagnóstico diferencial. Sin embargo, es menos probable, teniendo en cuenta la temporalidad entre la escleritis y los episodios retino-vasculares. Conclusiones: Aunque la variante G20210A del gen de la protrombina (F2) es una causa poco frecuente de oclusión de la arteria retiniana, es importante considerarla como diagnóstico diferencial. Se pueden conseguir buenos resultados visuales con el inicio rápido del tratamiento antitrombótico. Además, la OCT-A es útil para diagnosticar cambios isquémicos retinianos que no pueden observarse con otros métodos diagnósticos y monitorizarlos.

Título traducido de la contribución	Oclusión de la arteria central de la retina y posterior amaurosis fugax en el ojo contralateral asociada a la variante G20210A del gen de la protrombina (F2): informe de un caso.
Idioma original	Inglés estadounidense
Páginas (desde-hasta)	646-652
Número de páginas	7
Publicación	Ophthalmic Genetics
Volumen	43
N.º	5
DOI	https://doi.org/10.1080/13816810.2022.2068039
Estado	Publicada - oct. 2022

Áreas temáticas de ASJC Scopus

Pediatría, perinaltología y salud infantil
Oftalmología
Genética (clínica)

ODS de las Naciones Unidas

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Sierra-Cote, M. C., Muñoz-Ortiz, J., Botero-Meneses, J. S., Saldarriaga-Santos, C., Camacho, N., Rojas-Carabali, W., & de-la-Torre, A. (2022). Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report. Ophthalmic Genetics, 43(5), 646-652. https://doi.org/10.1080/13816810.2022.2068039

@article{1b74fde704a848b583ccc6e8c75150be,

title = "Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report",

abstract = "Purpose: Report the case of a patient with a history of central retinal artery occlusion in her right eye and amaurosis fugax associated with acute ischemic changes in her left eye related to a prothrombin G20210A gene variant, in which OCT-A was used as a diagnostic and therapeutic tool. Case presentation: 55-year-old woman with a history of central retinal artery occlusion in her right eye and prothrombin gene G20210A (F2) variant diagnosis. She presented to our consultation with amaurosis fugax in her left eye. As medical history, she had an episode of bilateral posterior scleritis diagnosed asynchronously with the current episode. Vascular, autoimmune, and metabolic prothrombotic diseases were ruled out. OCT-A showed areas suggesting acute ischemia consistent with macular retinopathy in her left eye. Anticoagulant therapy with Apixaban was initiated, considering the risk for her vision. Control OCT-A showed perfusion improvement in the previous site of the occlusive vascular event. We also considered the extent of the inflammatory response due to posterior scleritis as a differential diagnosis. Nevertheless, it is less likely, considering the temporality between scleritis and the retinal-vascular episodes. Conclusions: While the G20210A prothrombin gene (F2) variant is a rare cause of retinal artery occlusion, it is important to consider it a differential diagnosis. Good visual outcomes can be achieved with prompt initiation of antithrombotic treatment. In addition, OCT-A is useful for diagnosing ischemic retinal changes that cannot be observed with other diagnostic methods and monitoring them.",

author = "Sierra-Cote, {Mar{\'i}a Camila} and Juliana Mu{\~n}oz-Ortiz and Botero-Meneses, {Juan Sebasti{\'a}n} and Carolina Saldarriaga-Santos and Natalia Camacho and William Rojas-Carabali and Alejandra de-la-Torre",

note = "Funding Information: The author(s) reported there is no funding associated with the work featured in this article. We thank Universidad del Rosario for financing the publication charges of this article. Publisher Copyright: {\textcopyright} 2022 The Author(s). Published with license by Taylor & Francis Group, LLC.",

year = "2022",

month = oct,

doi = "10.1080/13816810.2022.2068039",

language = "English (US)",

volume = "43",

pages = "646--652",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

publisher = "Informa Healthcare",

number = "5",

}

Sierra-Cote, MC, Muñoz-Ortiz, J, Botero-Meneses, JS, Saldarriaga-Santos, C, Camacho, N, Rojas-Carabali, W & de-la-Torre, A 2022, 'Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report', Ophthalmic Genetics, vol. 43, n.º 5, pp. 646-652. https://doi.org/10.1080/13816810.2022.2068039

Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report. / Sierra-Cote, María Camila; Muñoz-Ortiz, Juliana; Botero-Meneses, Juan Sebastián et al.
En: Ophthalmic Genetics, Vol. 43, N.º 5, 10.2022, p. 646-652.

Producción científica: Contribución a una revista › Artículo de Investigación › revisión exhaustiva

TY - JOUR

T1 - Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report

AU - Sierra-Cote, María Camila

AU - Muñoz-Ortiz, Juliana

AU - Botero-Meneses, Juan Sebastián

AU - Saldarriaga-Santos, Carolina

AU - Camacho, Natalia

AU - Rojas-Carabali, William

AU - de-la-Torre, Alejandra

N1 - Funding Information: The author(s) reported there is no funding associated with the work featured in this article. We thank Universidad del Rosario for financing the publication charges of this article. Publisher Copyright: © 2022 The Author(s). Published with license by Taylor & Francis Group, LLC.

PY - 2022/10

Y1 - 2022/10

N2 - Purpose: Report the case of a patient with a history of central retinal artery occlusion in her right eye and amaurosis fugax associated with acute ischemic changes in her left eye related to a prothrombin G20210A gene variant, in which OCT-A was used as a diagnostic and therapeutic tool. Case presentation: 55-year-old woman with a history of central retinal artery occlusion in her right eye and prothrombin gene G20210A (F2) variant diagnosis. She presented to our consultation with amaurosis fugax in her left eye. As medical history, she had an episode of bilateral posterior scleritis diagnosed asynchronously with the current episode. Vascular, autoimmune, and metabolic prothrombotic diseases were ruled out. OCT-A showed areas suggesting acute ischemia consistent with macular retinopathy in her left eye. Anticoagulant therapy with Apixaban was initiated, considering the risk for her vision. Control OCT-A showed perfusion improvement in the previous site of the occlusive vascular event. We also considered the extent of the inflammatory response due to posterior scleritis as a differential diagnosis. Nevertheless, it is less likely, considering the temporality between scleritis and the retinal-vascular episodes. Conclusions: While the G20210A prothrombin gene (F2) variant is a rare cause of retinal artery occlusion, it is important to consider it a differential diagnosis. Good visual outcomes can be achieved with prompt initiation of antithrombotic treatment. In addition, OCT-A is useful for diagnosing ischemic retinal changes that cannot be observed with other diagnostic methods and monitoring them.

AB - Purpose: Report the case of a patient with a history of central retinal artery occlusion in her right eye and amaurosis fugax associated with acute ischemic changes in her left eye related to a prothrombin G20210A gene variant, in which OCT-A was used as a diagnostic and therapeutic tool. Case presentation: 55-year-old woman with a history of central retinal artery occlusion in her right eye and prothrombin gene G20210A (F2) variant diagnosis. She presented to our consultation with amaurosis fugax in her left eye. As medical history, she had an episode of bilateral posterior scleritis diagnosed asynchronously with the current episode. Vascular, autoimmune, and metabolic prothrombotic diseases were ruled out. OCT-A showed areas suggesting acute ischemia consistent with macular retinopathy in her left eye. Anticoagulant therapy with Apixaban was initiated, considering the risk for her vision. Control OCT-A showed perfusion improvement in the previous site of the occlusive vascular event. We also considered the extent of the inflammatory response due to posterior scleritis as a differential diagnosis. Nevertheless, it is less likely, considering the temporality between scleritis and the retinal-vascular episodes. Conclusions: While the G20210A prothrombin gene (F2) variant is a rare cause of retinal artery occlusion, it is important to consider it a differential diagnosis. Good visual outcomes can be achieved with prompt initiation of antithrombotic treatment. In addition, OCT-A is useful for diagnosing ischemic retinal changes that cannot be observed with other diagnostic methods and monitoring them.

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Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report

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