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Published on: September 20, 2018
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.
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.
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.
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