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Updated: Feb 9, 2026

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep
Published on: January 19, 2014
Atypical presentation of Best Disease
Ó Gutiérrez-Montero1, J A Reche-Sainz1, M J Peral Ortiz de la Torre1
1Servicio de Oftalmología, Hospital Universitario de Fuenlabrada, Fuenlabrada, Madrid, España.
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.
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