Ciliary Defects in Inherited Retinal Diseases

TL;DR

This review explains how defects in photoreceptor cilia cause inherited retinal diseases and explores new treatments targeting these defects.

Contribution

The paper systematically summarizes ciliary defects in IRDs and evaluates novel therapeutic strategies for ciliary restoration.

Findings

Ciliary gene mutations cause structural and functional defects in photoreceptor cilia, leading to inherited retinal diseases.

Emerging gene-targeted therapies show promise for treating ciliary defects in retinal degeneration.

Understanding molecular mechanisms of ciliary dysfunction is key to developing effective IRD treatments.

Abstract

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.

The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies targeting ciliary restoration.

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