Archivos de la Sociedad Espanola de Oftalmologia · 2018
Atypical presentation of Best Disease.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Gutiérrez-Montero Ó, Reche-Sainz J A, Peral Ortiz de la Torre M J, Toledano-Fernández N
Аннотация
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.
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.