Related Experiment Video
Updated: Mar 10, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
Ciliary Defects in Inherited Retinal Diseases
Guizhi Guo1, Lin Li1, Jun Zhou1,2
1Center for Cell Structure and Function College of Life Sciences Shandong Normal University Jinan China.
None:
Inherited retinal diseases (IRDs) are a heterogeneous group of disorders characterized by progressive photoreceptor degeneration that frequently results in severe vision loss. A major cause of IRDs is attributed to structural or functional defects of the photoreceptor cilium that arise from mutations in ciliary genes. The photoreceptor outer segment is a highly specialized sensory cilium composed of hundreds of stacked, flattened, membranous discs. This complex membrane architecture constitutes the primary site of phototransduction, in which light stimuli are converted into biochemical signaling cascades that ultimately generate electrical signals. In this review, the structure and function of photoreceptors are systematically described, major classes of IRDs caused by mutations in ciliary genes are summarized, and the therapeutic potential of emerging ciliary gene-targeted strategies is critically evaluated in the context of recent advances in IRD treatment.
Related Concept Videos
Photoreceptors and Visual Pathways
Focusing of Light in the Eye
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Mechanism of Ciliary Motion
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
Microtubules in Signaling

