Presentación atípica de la enfermedad de Best
2018
espanolCaso clinico Varon de 43 anos atendido por agudeza visual reducida, inicialmente atribuida a ambliopia estrabica. Funduscopicamente se observaban extensos desprendimientos neurosensoriales (DNS) bilaterales en el polo posterior, delimitados por acumulacion de lipofucsina. Un hijo suyo de 3 anos fue tambien 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 indice de Arden estaba disminuido en la electrooculografia, y el estudio genetico revelo una misma mutacion del gen BEST1. Discusion La existencia de amplios DNS bilaterales puede ser una forma inusual de presentacion de la enfermedad de Best. La historia familiar, la electrooculografia y el estudio genetico avalaron este diagnostico. EnglishClinical 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.
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