# Noninvasive Assessment of Pathophysiology in Retinitis Pigmentosa

> **NIH NIH F30** · MEDICAL COLLEGE OF WISCONSIN · 2020 · $43,400

## Abstract

Project Summary
Retinitis Pigmentosa (RP) is a degenerative retinal disease that affects over 2 million people worldwide.
Patients initially suffer from night blindness and gradually lose their peripheral vision as their visual field
becomes increasingly restricted. The majority of patients with RP are completely blind by age 40. Although
there is no treatment for RP, many cell and gene replacement therapies are currently being explored. The
overall goal of this project is to provide an improved understanding of the in vivo manifestations of the
pathophysiology of RP, to guide the continued development and translation of the various therapeutic
approaches. In order to effectively diagnose and treat RP, there is a need to develop methods to quantify
disease progression on a cellular scale. We will accomplish this through the following two aims – Aim 1: Test
the hypothesis that cone reflectivity is positively correlated with function in the transition zone in patients with
RP; Aim 2: Determine the sensitivity of in vivo retinal imaging tools (AOSLO & OCT) for detecting
degenerative changes in cone structure in RP. For aim 1, we will use high-resolution imaging with adaptive
optics to directly image the cone photoreceptors in patients with RP. This imaging has previously shown that
cones in the RP retina don't reflect light normally, suggesting they are “sick” or malformed. What isn't known is
whether these cones are functional – and we will examine this by using microperimetry to test the sensitivity of
individual cones in areas of active disease in patients with RP. This work should result in a validated, cellular-
resolution method for assessing retinal function. For aim 2, we will use a transgenic pig model of RP to study
how understand how specific anatomical changes in cone structure (due to degeneration) affect the
visualization of cones in high-resolution images of the living retina. This work addresses the broad knowledge
gap surrounding the cellular origins of reflective signals in both AOSLO and OCT images, which will have a
positive impact on the acceptance of these methods for noninvasive monitoring of photoreceptor structure and
function in RP and other inherited retinal degenerations. Importantly, this project approaches this goal using
both human RP patients and an established RP animal model, a truly unique aspect of the fellowship training.

## Key facts

- **NIH application ID:** 9994898
- **Project number:** 5F30EY027706-04
- **Recipient organization:** MEDICAL COLLEGE OF WISCONSIN
- **Principal Investigator:** Alison L Huckenpahler
- **Activity code:** F30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $43,400
- **Award type:** 5
- **Project period:** 2017-09-01 → 2021-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9994898

## Citation

> US National Institutes of Health, RePORTER application 9994898, Noninvasive Assessment of Pathophysiology in Retinitis Pigmentosa (5F30EY027706-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9994898. Licensed CC0.

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