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AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE
Ananda Kalevar1,2,3, Judy J Chen1,2, H Richard McDonald1,2
1Department of Ophthalmology, California Pacific Medical Center, San Francisco, California.
Retinal Cases & Brief Reports
|February 1, 2018
Summary
Autosomal recessive bestrophinopathy, a retinal disease from BEST1 gene mutations, is detailed using modern imaging. This case report highlights classic findings for better diagnosis and understanding of this genetic condition.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Autosomal recessive bestrophinopathy (ARB) is a retinal disease associated with mutations in the BEST1 gene.
- BEST1 gene mutations contribute to a wide range of retinal disorders.
- Understanding the genetic basis of ARB is crucial for diagnosis and treatment.
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