Project Aim

This project aims to determine whether parameters from a recently developed virtual reality (VR) mobility and light discomfort threshold assessment tool may serve as biomarkers of functional vision in participants with achromatopsia (ACHM) and albinism. 

The long-term goal will be to determine whether the VR mobility assessment tool parameters can document longitudinal changes in functional vision and serve as a suitable outcome measure for participants in ACHM clinical trials.  

Project Summary 

This observational, cross-sectional study will assess 20 patients with achromatopsia, 20 patients with albinism and 20 healthy volunteers, a total of 60 participants will be recruited.   

The project will use three different courses and different luminances to test whether a Virtual Reality (VR) luminance assessment tool can be used to assess functional vision in participants with ocular disease associated with photoaversion.  

A main contributor to disability in the real world for visually impaired patients is poor mobility and in patients with ACHM, photosensitivity. Assessing movement of low-vision patients in a safe environment is a quality-of-life measure that can be used to assess their residual vision. This may provide an alternative method to those such as visual acuity, visual field and area of retinal atrophy in determining clinical trial outcome measures for advanced retinal dystrophies, which are challenging due to the significant vision impairment and slow progression.

Expected outcomes

The expected outcome of this project will be the identification of the most useful VR parameters to assess function for individuals with photoaversion and photophobia. It will also correlate visual photosensitivity threshold and palpebral aperture (opening between the eyelids) measurement with patient reported outcomes. 

It will assess whether the virtual reality (VR) mobility and environmental background lighting assessment tool can pick up changes in functional vision and light sensitivity in patients with achromatopsia to demonstrate that mobility improvements may provide an indicator of treatment efficacy. This may then be used for measuring clinical trial success of new developing treatments. National regulatory authorities will not recognise and support successful gene therapies if measurable improvements or slowing of natural history of degradation are not demonstrated. 

This may prevent future failure of clinical trials to reach their trial endpoint by meeting National regulatory authorities’ criteria to see real world improvements in visual function, and therefore enabling the progression of successful clinical trials for inherited retinal dystrophies.

Chief investigator:
Dr Elisa Cornish
Save Sight Institute, Sydney


Professor Gregg Suaning, School of Biomedical Engineering, The University of Sydney

Professor John Grigg, Save Sight Institute, Sydney

Grant awarded:

1 Year 2024

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