# The Roles of EYS in photoreceptor health

> **NIH NIH R21** · UPSTATE MEDICAL UNIVERSITY · 2020 · $243,000

## Abstract

Mutations in the secreted protein known as eyes shut homolog (EYS) make up a large number
of autosomal recessive cases of cone-rod dystrophy and retinitis pigmentosa, retinal degeneration
characterized by loss of photoreceptors. Interestingly, although present in most mammals, the
rodent genome does not have a functional EYS locus. EYS protein in zebrafish is located near
the connecting cilium, a structure that connects the inner and outer segment of photoreceptors
and deletion of EYS causes photoreceptor degeneration in the zebrafish. Although EYS-deficient
zebrafish does provide opportunities for mechanistic studies, it is a poor model for testing gene- or
cell-based therapies for human retinal degeneration. This project is aimed at generating a novel
EYS-deficient novel model essential for therapeutic development:
 Aim 1: Generation of a novel animal model bearing mutations in the EYS locus by genome
editing.
 Aim 2: Evaluating retinal development and maturation by non-invasive assessments of
structure and function: optical coherence tomography (OCT) and electroretinography (ERG).
 At the completion of the studies, we will have generated founder animals bearing mutations in
the EYS locus. These animals will be used to generate a germline-transmitted EYS deficient
retinal degeneration model in the future. They will be essential for testing gene- or cell-based
therapies and for understanding how EYS deletion impacts the function and maintenance. In
addition, robust protocols for non-invasive ophthalmologic and functional evaluations of the retina
will be established for critical evaluation of retinal degeneration models in the future.

## Key facts

- **NIH application ID:** 10056405
- **Project number:** 1R21EY031002-01A1
- **Recipient organization:** UPSTATE MEDICAL UNIVERSITY
- **Principal Investigator:** HUAIYU HU
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $243,000
- **Award type:** 1
- **Project period:** 2020-09-01 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10056405

## Citation

> US National Institutes of Health, RePORTER application 10056405, The Roles of EYS in photoreceptor health (1R21EY031002-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10056405. Licensed CC0.

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