Mitogen-activated protein kinase inhibitor-associated retinopathy (MEKAR). A clinical case.

Mitogen-activated protein kinase kinase (MEK) inhibitors have significantly improved the prognosis of various types of cancer such as metastatic melanoma. However, their use is usually associated with ocular side effects. A retinopathy associated with these agents (MEKAR) has been described, consisting of the development of neurosensory detachments, generally bilateral and multiple, similar to those that appear in the central serous chorioretinopathy (CSC). Generally, optical coherence tomography allows us to differentiate the two conditions. We present the case of a 55-year-old woman in treatment with a MEK inhibitor, who developed bilateral neurosensory detachments and blurred vision, which resolved with the discontinuance of the treatment due to tumour progression.

Retinopatía asociada a inhibidor de la proteinquinasa de activación mitogénica (MEKAR). A propósito de un caso / Mitogen-activated protein kinase inhibitor-associated retinopathy (MEKAR). A clinical case

Los inhibidores de la proteína quinasa de activación mitogénica (MEK) son fármacos utilizados para el tratamiento de neoplasias tales como el melanoma metastásico. Su introducción ha mejorado el pronóstico de estas enfermedades, pero su uso no está exento de complicaciones oculares. Se ha descrito una retinopatía asociada a estos fármacos (MEKAR) consistente en la aparición de desprendimientos neurosensoriales (DNS), generalmente bilaterales y múltiples similares a los que aparecen en la coriorretinopatía serosa central (CSC). En la mayoría de los casos la tomografía de coherencia óptica es suficiente para diferenciar esta entidad de una CSC. Presentamos el caso de una paciente de 55 años que, en este contexto, desarrolló DNS bilaterales que asociaron disminución de agudeza visual y que se resolvieron cuando se suspendió la terapia por progresión tumoral (AU)

Mitogen-activated protein kinase kinase (MEK) inhibitors have significantly improved the prognosis of various types of cancer such as metastatic melanoma. However, their use is usually associated with ocular side effects. A retinopathy associated with these agents (MEKAR) has been described, consisting of the development of neurosensory detachments, generally bilateral and multiple, similar to those that appear in the central serous chorioretinopathy (CSC). Generally, optical coherence tomography allows us to differentiate the two conditions. We present the case of a 55-year-old woman in treatment with a MEK inhibitor, who developed bilateral neurosensory detachments and blurred vision, which resolved with the discontinuance of the treatment due to tumour progression (AU)

Hemorragias prerretinianas de repetición asociadas a déficit del factor VII de la coagulación / Recurrent pre-retinal haemorrhages associated with coagulation factor VII deficiency

Mujer de 20 años de edad con disminución brusca de visión en el ojo izquierdo. En la exploración de fondo de ojo, se observó una hemorragia prerretiniana focal en la arcada temporal superior con hemovítreo acompañante. La evolución espontánea fue favorable. A los 18 meses presentó una nueva pérdida visual en ese ojo, objetivándose una hemorragia premacular subhialoidea que fue drenada satisfactoriamente mediante una hialoidotomía con láser Nd-YAG. La paciente había presentado además, una hemorragia digestiva alta y menorragia. Se le realizó un estudio de la hemostasia que demostró un déficit del factor VII de la coagulación. Se trata de un trastorno muy infrecuente que, con anterioridad, no se había descrito en asociación a la aparición de hemorragias prerretinianas

The case concerns a 20 year-old woman with a sudden visual loss in her left eye. In the fundus examination, a focal pre-retinal haemorrhage was observed in the superior temporal vascular branch with accompanying vitreous haemorrhage. There was a favourable spontaneous outcome. Eighteen months later, she presented with a new visual loss in the same eye, showing a sub-hyaloid pre-macular haemorrhage that was satisfactorily drained by hyaloidotomy using a Nd-YAG laser. The patient had also presented with an upper digestive tract haemorrhage and menorrhagia. A haemostasis study was performed that showed a coagulation factor VII deficiency. This is a very uncommon disorder that has not been previously described in association with the appearance of pre-retinal haemorrhages

Recurrent pre-retinal haemorrhages associated with coagulation factor VII deficiency. / Hemorragias prerretinianas de repetición asociadas a déficit del factor VII de la coagulación.

The case concerns a 20 year-old woman with a sudden visual loss in her left eye. In the fundus examination, a focal pre-retinal haemorrhage was observed in the superior temporal vascular branch with accompanying vitreous haemorrhage. There was a favourable spontaneous outcome. Eighteen months later, she presented with a new visual loss in the same eye, showing a sub-hyaloid pre-macular haemorrhage that was satisfactorily drained by hyaloidotomy using a Nd-YAG laser. The patient had also presented with an upper digestive tract haemorrhage and menorrhagia. A haemostasis study was performed that showed a coagulation factor VII deficiency. This is a very uncommon disorder that has not been previously described in association with the appearance of pre-retinal haemorrhages.

Presentación atípica de la enfermedad de Best / Atypical presentation of Best Disease

CASO CLÍNICO: Varón de 43 años atendido por agudeza visual reducida, inicialmente atribuida a ambliopía estrábica. Funduscópicamente se observaban extensos desprendimientos neurosensoriales (DNS) bilaterales en el polo posterior, delimitados por acumulación de lipofucsina. Un hijo suyo de 3 años fue también explorado y, en el fondo de ojo, presentaba DNS circunscritos con presencia de pseudohipopion en el ojo derecho y fibrosis cicatricial en el ojo izquierdo. Para ambos, el índice de Arden estaba disminuido en la electrooculografía, y el estudio genético reveló una misma mutación del gen BEST1. Discusión: La existencia de amplios DNS bilaterales puede ser una forma inusual de presentación de la enfermedad de Best. La historia familiar, la electrooculografía y el estudio genético avalaron este diagnóstico

CLINICAL CASE: A 43-year-old man was treated for reduced visual acuity, initially attributed to strabismic amblyopia. On fundus examination, bilateral neurosensory detachments (NSD) were observed in posterior pole, surrounded by deposits of lipofuscin. His 3-year-old son was also examined and circumscribed NSD was observed with the presence of pseudohypopyon in OD and a fibrosis scar in OS. The Arden ratio were decreased in electrooculography (EOG) in both patients, and genetic studies revealed a single mutation of the BEST1 gene. DISCUSSION: The existence of extensive bilateral NSD may be an unusual form of presentation of Best disease. Family history, EOG, and genetic study supported this diagnosis

Papiloflebitis en varón joven con enfermedad de Buerger / Papillophlebitis in a young male patient with Buerger's disease

CASO CLÍNICO: Varón de 27 años con pérdida visual brusca del OD. Como antecedentes personales había sido gran fumador y presentaba una isquemia crónica del miembro inferior izquierdo desde hacía un año. Por ello estaba diagnosticado de enfermedad de Buerger, que es un trastorno trombótico inflamatorio que afecta a los vasos de pequeño y mediano calibre. La agudeza visual (AV) del OD era de 0,9 y en la funduscopia se observaba una papila muy congestiva, tortuosidad venosa, hemorragias retinianas dispersas, pero sin edema macular. La evolución espontánea fue favorable con la completa recuperación de la AV. Discusión: La papiloflebitis puede ser una complicación ocular de la enfermedad de Buerger

CLÍNICAL CASE: 27-year-old male with sudden visual loss of OD. He had a past history of heavy smoking, as well as a chronic ischaemia of his left lower limb of one-year onset. This led to a diagnosis of Buerger's disease, which is an inflammatory thrombotic disorder that affects small and medium vessels. The visual acuity (VA) of OD was 0.9, and in the funduscopy a very congestive papilla was observed, along with venous tortuosity, scattered retinal haemorrhages, but without macular oedema. He progressed favourably, with a complete recovery of VA. DISCUSSION: Papillophlebitis may be an ocular complication of Buerger's disease

Atypical presentation of Best Disease. / Presentación atípica de la enfermedad de Best.

CLINICAL CASE: A 43-year-old man was treated for reduced visual acuity, initially attributed to strabismic amblyopia. On fundus examination, bilateral neurosensory detachments (NSD) were observed in posterior pole, surrounded by deposits of lipofuscin. His 3-year-old son was also examined and circumscribed NSD was observed with the presence of pseudohypopyon in OD and a fibrosis scar in OS. The Arden ratio were decreased in electrooculography (EOG) in both patients, and genetic studies revealed a single mutation of the BEST1 gene. DISCUSSION: The existence of extensive bilateral NSD may be an unusual form of presentation of Best disease. Family history, EOG, and genetic study supported this diagnosis.

Papillophlebitis in a young male patient with Buerger's disease. / Papiloflebitis en varón joven con enfermedad de Buerger.

CLINICAL CASE: A 27-year-old male with sudden visual loss of OD. He had a past history of heavy smoking, as well as a chronic ischaemia of his left lower limb of one-year onset. This led to a diagnosis of Buerger's disease, which is an inflammatory thrombotic disorder that affects small and medium vessels. The visual acuity (VA) of OD was 0.9, and in the funduscopy a very congestive papilla was observed, along with venous tortuosity, scattered retinal haemorrhages, but without macular oedema. He progressed favourably, with a complete recovery of VA. DISCUSSION: Papillophlebitis may be an ocular complication of Buerger's disease.

Epitelitis pigmentaria retiniana aguda. Diagnóstico mediante tomografía de coherencia óptica / Acute retinal pigment epitheliitis. Diagnosis using optical coherence tomography

CASO CLÍNICO: Una mujer de 17 años de edad consultó por una disminución visual aguda y bilateral. Oftalmoscópicamente se le observó un depósito subfoveal de aspecto viteliforme. En la tomografía de coherencia óptica, aparecía como un material hiperreflectivo y homogéneo acumulado en la capa de los segmentos externos de fotorreceptores. Al mes de evolución, se produjo la recuperación visual espóntanea, con la normalización del aspecto macular. Tomográficamente se comprobó también la desaparición de dicho material subretiniano. DISCUSIÓN: La epitelitis pigmentaria retiniana aguda es una enfermedad infrecuente, que suele causar una pérdida visual transitoria y de buen pronóstico, en sujetos jóvenes

CASE REPORT: A 17 year-old female presented with a bilateral and acute visual loss. On ophthalmoscopic examination, there was a subfoveal deposit with a vitelliform appearance. Optical coherence tomography revealed a hyperreflective and homogeneous material located at the photoreceptor external segment layer. A month later, vision had spontaneously recovered and macular appearance was normalised. On tomography, the subretinal material had completely disappeared. DISCUSSION: Acute retinal pigment epitheliitis is a rare condition that usually causes a transient visual loss, with a good prognosis in young subjects

[Acute retinal pigment epitheliitis. Diagnosis using optical coherence tomography]. / Epitelitis pigmentaria retiniana aguda. Diagnóstico mediante tomografía de coherencia óptica.

CASE REPORT: A 17 year-old female presented with a bilateral and acute visual loss. On ophthalmoscopic examination, there was a subfoveal deposit with a vitelliform appearance. Optical coherence tomography revealed a hyperreflective and homogeneous material located at the photoreceptor external segment layer. A month later, vision had spontaneously recovered and macular appearance was normalised. On tomography, the subretinal material had completely disappeared. DISCUSSION: Acute retinal pigment epitheliitis is a rare condition that usually causes a transient visual loss, with a good prognosis in young subjects.