Spotlight on childhood blindness
José-Alain Sahel
José-Alain Sahel
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Commentary

Spotlight on childhood blindness

Abstract

Leber congenital amaurosis (LCA) is a rare disease that severely affects vision in early life. It is characterized by genetic and clinical heterogeneity due to complex and not fully understood pathogenetic mechanisms. It is also now widely known as a disease model for gene therapy. In this issue of the JCI, two independent research groups report valuable new data on LCA. Specifically, they provide important insights into the pathophysiological mechanisms of LCA and offer strong hope that the outcome of gene therapy for retinal degenerative diseases will be successful.

Authors

José-Alain Sahel

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Figure 2

Photoreceptor CC.

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Photoreceptor CC. Cilia consist of a backbone (or axoneme), which contai...
Cilia consist of a backbone (or axoneme), which contains microtubule doublets arranged in a circle. The cilium is anchored in the basal body, which regulates and organizes microtubule assembly. The photoreceptor CC is a specialized primary (nonmotile) cilium. It connects the photoreceptor IS, which contains the metabolic machinery of the cell, and the OS, which contains the photosensitive apparatus. As the OS is unable to synthesize proteins and lipids, the CC has an important role in transport from the IS to the OS. RPGR, retinitis pigmentosa GTPase regulator.