Diagnóstico oftalmológico del síndrome de linfedema-distiquiasis a través de la mutación FOXC2 / Ophthalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation

El síndrome de linfedema-distiquiasis es uno de los fenotipos más frecuentes de aparición de linfedema primario; aun así, su prevalencia es baja.Este síndrome cursa con la aparición en la infancia o en la pubertad de pestañas aberrantes y otras formas de distiquiasis que pueden disminuir la calidad de vida, especialmente en pacientes en edades tan tempranas. La valoración clínica de este tipo de signos debe hacernos tener en mente este grupo de síndromes, ya que contamos, en este caso, con el diagnóstico de certeza gracias al análisis genético en suero del gen FOXC2, como ocurre en el caso que presentamos.De esta manera podemos prevenir, diagnosticar y tratar tanto los síntomas oftalmológicos como el resto de los síntomas sistémicos de forma precoz y más efectiva, aumentando así la calidad de vida de nuestros pacientes. (AU)

Lymphedema-distichiasis syndrome is one of the most frequent phenotypes of primary lymphedema, even so, its prevalence is still low.This syndrome courses with the appearance of abnormal eyelashes and distichiasis during childhood or puberty. This can cause a notable discomfort on our patients, especially at such an early age. The clinic evaluation of this signs must make us have in mind this group of syndromes, because in the case of lymphedema distichiasis syndrome, we can certainly diagnose it with the genetic analysis of the FOXC2 gen on patient's serum.With this we could prevent, diagnose and treat the ophthalmologic syndrome alongside the rest of systemic symptoms of this syndrome in a more effective way, giving our patients a higher quality of life. (AU)

Ophtalmologic diagnosis of lymphedema-distichiasis syndrome through the FOXC2 mutation.

Lymphedema distichiasis syndrome is one of the most frequent phenotypes of primary lymphedema, even so, its prevalence is still low. This syndrome courses with the appearance of abnormal eyelashes and distichiasis during childhood or puberty. This can cause a notable discomfort on our patients, especially at such an early age. The clinic evaluation of this signs must make us have in mind this group of syndromes, because in the case of lymphedema distichiasis syndrome, we can certainly diagnose it with the genetic analysis of the FOXC2 gen on patient's serum. With this we could prevent, diagnose and treat the ophthalmologic syndrome alongside the rest of systemic symptoms of this syndrome in a more effective way, giving our patients a higher quality of life.

Citrobacter koseri. Una endoftalmitis exógena inusual / Citrobacter koseri, an unusual exogenous endoftalmitis

Citrobacter koseri es un bacilo gramnegativo que causa endoftalmitis de forma muy infrecuente y agresiva, asociando mal pronóstico visual. Solo el 6% de las endoftalmitis son por gramnegativos y nuestro germen representa un pequeño porcentaje. Presentamos un varón de 65 años que trabaja en un laboratorio de animales. Acude a urgencias por pérdida de visión del ojo izquierdo debido a una hemorragia vítrea y desprendimiento de retina. Se practica una vitrectomía y 3 días después, desarrolla una endoftalmitis. Se realiza tratamiento intravítreo con inyecciones de vancomicina y ceftazidima así como tratamiento antibiótico tópico. Veinticuatro horas después, regresa con perforación corneal y una extrusión del cristalino. Ante la gravedad del cuadro se realiza una evisceración. El cultivo de las muestras confirman el microorganismo. Suponemos que la puerta de entrada del germen fueron las esclerotomías por el material de sutura expuesto, tras la manipulación de heces de roedores.(AU)

Citrobacter koseri is a bacillus that causes infrequent endophthalmitis. Six percent of cultures in endophthalmitis are Gram -, and as in these, Citrobacter koseri is associated with a poor visual prognosis. We present a 65-year-old man who works in an animal laboratory. He went to emergencies with loss of vision in his left eye due to a vitreous hemorrhage. A vitrectomy was performed and 3 days later, endophthalmitis was diagnosed. Vancomycin and ceftazidime were applied in eye drops and in two intravitreal injections. Twenty-four hours later he returned with a lens extrusion. Due to the severity of the condition, an evisceration was performed. Subsequently, the samples confirm the microorganism. We assume that the entry point for the bacterium was the sclerotomies through the exposed suture material, after handling rodent feces.(AU)

Citrobacter koseri, an unusual exogenous endoftalmitis.

Citrobacter koseri is a bacillus that causes infrequent endophthalmitis. 6% of cultures in endophthalmitis are Gram -, and as in these, C. koseri is associated with a poor visual prognosis. We present a 65-year-old man who works in an animal laboratory. He went to emergencies with loss of vision in his left eye due to a vitreous hemorrhage. A vitrectomy was performed and 3 days later, endophthalmitis was diagnosed. Vancomycin and Ceftazidime were applied in eye drops and in two intravitreal injections. 24 h later he returned with a lens extrusion. Due to the severity of the condition, an evisceration was performed. Subsequently, the samples confirm the microorganism. We assume that the entry point for the bacterium was the sclerotomies through the exposed suture material, after handling rodent feces.