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Related Experiment Video

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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
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UNILATERAL BEST DISEASE: A CASE REPORT.

Talia R Kaden1, Anna C S Tan, Leonard Feiner

  • 1*Vitreous-Retina-Macula Consultants of New York, New York, New York; †The LuEsther T. Mertz Retinal Research Center, New York, New York; ‡Department of Ophthalmology, New York University School of Medicine, New York, New York; §Singapore National Eye Center, Singapore Eye Research Institute, Singapore, Singapore; and ¶NJ Retina, New Jersey.

Retinal Cases & Brief Reports
|September 27, 2016
PubMed
Summary

This study details a rare case of unilateral Best disease, a genetic retinal disorder, caused by a BEST1 gene mutation. Multimodal imaging revealed characteristic findings, including serous retinal detachment, in one eye only.

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Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Best disease is typically an autosomal dominant inherited retinal dystrophy.
  • It usually presents bilaterally, affecting the retinal pigment epithelium and photoreceptors.

Observation:

  • A 62-year-old female presented with unilateral Best disease.
  • Multimodal imaging of the affected right eye showed retinal pigment epithelium changes and serous retinal detachment.
  • The left eye was unaffected by any imaging modality.

Findings:

  • Optical coherence tomography confirmed serous retinal detachment.
  • Fluorescein angiography and fundus autofluorescence revealed central staining and hypoautofluorescence.
  • Indocyanine green angiography and OCT-angiography ruled out choroidal hyperpermeability and neovascularization.

Implications:

  • This case highlights a unique presentation of unilateral Best disease.
  • The p.G15D mutation in the BEST1 gene was identified as the cause.
  • Best disease should be considered in the differential diagnosis of serous retinal detachment, even when unilateral, and can mimic central serous chorioretinopathy.