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Updated: Feb 20, 2026

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells
Published on: December 12, 2014
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment
Ying Hsu1,2, Janelle E Garrison2, Gunhee Kim2
1Interdisciplinary Graduate Program in Molecular Medicine, University of Iowa, Iowa City, Iowa, United States.
Restoring Bardet-Biedl syndrome protein 8 (BBS8) in developing mouse retinas can reverse outer segment defects, restoring normal vision. This suggests a critical window for therapeutic intervention in inherited retinal diseases.
Area of Science:
- Genetics
- Cell Biology
- Ophthalmology
Background:
- Primary cilia genetic mutations cause inherited retinal diseases.
- Bardet-Biedl syndrome (BBS) is a ciliopathy featuring retinal degeneration and other abnormalities.
- The BBSome complex is crucial for ciliary transport.
Purpose of the Study:
- Investigate mechanisms of retinal degeneration in BBS.
- Determine the role of Bbs8 in retinal outer segment development and maintenance.
- Explore therapeutic potential for restoring retinal function.
Main Methods:
- Developed congenital and conditional Bbs8 knockout mouse models.
- Utilized inducible FLP recombinase to restore Bbs8 expression.
- Assessed retinal outer segment morphogenesis, photoreceptor function, and structure.
Main Results:
- BBS mutant mice exhibit defective retinal outer segment morphogenesis.
- Bbs8 removal in adult mice impairs photoreceptor function and structure.
- Restoring BBS8 in immature retinas with defects allows normal outer segment extension and disc formation.
Conclusions:
- Bbs8 is essential for normal retinal outer segment development.
- Retinal outer segment defects in BBS can be ameliorated if BBS8 is restored during a specific developmental window.
- This highlights a potential therapeutic window for inherited retinal ciliopathies.
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