# EFA6A regulates retinal function through the control of photoreceptor cell activity and structure

**Authors:** Sophie Abélanet, Sophie Pagnotta, Frédéric Brau, Marie Péquignot, Valérie Scheuermann, Sandra Lacas-Gervais, Carole Rovere, Alain Corinus, Lætitia Della-Croce, Cécile Delettre, Frédéric Luton, Michel Franco

PMC · DOI: 10.1016/j.isci.2026.115179 · iScience · 2026-02-28

## TL;DR

EFA6A is crucial for retinal function by controlling photoreceptor cell activity and structure, and its absence causes vision-related defects.

## Contribution

EFA6A's role in regulating retinal function and photoreceptor structure is newly identified.

## Key findings

- EFA6A depletion in the retina causes morphological and functional defects in photoreceptors.
- EFA6A is essential for retinal pigment epithelium phagocytic activity.
- Loss of EFA6A disrupts retinal homeostasis and neuronal organization.

## Abstract

The initial step in visual perception, i.e., the collection of light, is carried out by the outer segments of photoreceptor cells. These outer segments, specialized primary cilia, house the photopigments that absorb photons. Here, we report that EFA6A, an exchange factor for the small G protein Arf6, previously described as a regulator of early ciliogenesis by promoting distal appendage vesicle fusion, is essential for visual function. We demonstrate that EFA6A is present in various layers of the mouse retina, including the photoreceptors and the retinal pigment epithelium (RPE). Accordingly, depletion of EFA6A in the mouse retina leads to both morphological and functional defects in photoreceptors, resembling the phenotypes observed in retinal ciliopathies. We also show that EFA6A depletion in RPE cells severely impairs their phagocytic activity. Thus, our results point out a key role for EFA6A in the control of visual activity.

•EFA6A contributes to the regulation of retinal function•Loss of EFA6A alters retinal physiological responses•EFA6A impacts retinal neuronal organization•EFA6A is required for retinal homeostasis

EFA6A contributes to the regulation of retinal function

Loss of EFA6A alters retinal physiological responses

EFA6A impacts retinal neuronal organization

EFA6A is required for retinal homeostasis

Molecular biology; Sensory neuroscience; Cell biology

## Linked entities

- **Genes:** PSD (pleckstrin and Sec7 domain containing) [NCBI Gene 5662], ARF6 (ARF GTPase 6) [NCBI Gene 382]
- **Species:** Mus musculus (taxon 10090)

## Full-text entities

- **Genes:** Arf6 (ARF GTPase 6) [NCBI Gene 11845], Psd (pleckstrin and Sec7 domain containing) [NCBI Gene 73728] {aka 1110007H17Rik, A930015K15, Efa6, Efa6a, Psdl, mKIAA2011}
- **Diseases:** retinal ciliopathies (MESH:D000072661)
- **Species:** Mus musculus (house mouse, species) [taxon 10090]

## Full text

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## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12995699/full.md

## References

25 references — full list in the complete paper: https://tomesphere.com/paper/PMC12995699/full.md

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Source: https://tomesphere.com/paper/PMC12995699