Genetic eye disease

Dr Jasleen Jolly has expertise of working with genetic eye diseases, particularly inherited retinal diseases.

She has previously been involved in a number of therapeutic trials for new therapies, including first-in-humans trials and gene therapy. From this work, Dr Jolly has identified the importance of a number of issues at stake in increasing the success of these trials:

VERI is working with multiple partners both within ARU and multinationally to:

A range of tools is utilised to probe visual function at multiple levels and to understand structure-function correlations, keeping in mind regulatory requirements for outcome measure development.

Equipment is available for both imaging and functional analysis, including access to clinical electrophysiology.

We are currently recruiting for an active project designing mobility outcome measures to be used in future clinical trials (in conjunction with the Faculty of Science and Engineering).

Recent publications

Taylor, L. J., Josan, A. S., Pfau, M., Simunovic, M. P., Jolly, J. K., 2022. Scotopic microperimetry: evolution, applications and future directions. Clinical and Experimental Optometry. doi: 10.1080/08164622.2021.2023477

Pfau, M., Jolly, J. K., Wu, Z., Denniss, J., Lad, E. M., Guymer, R. H., Fleckenstein, M., Holz, F. G., Schmitz-Valckenberg, S., 2021. Fundus-controlled perimetry (microperimetry): Application as outcome measure in clinical trials. Prog. Retin. Eye Res., 82, 100907. doi: 10.1016/j.preteyeres.2020.100907

Jolly, J. K., Wagner, S. K., Martus, P., MacLaren, R. E., Wilhelm, B., Webster, A. R., Downes, S. M., Issa, P. C. I., Kellner, U, Jagle, H., Ruether, K., Bertelsen, M., Bragadottir, R., Holtan, J. P., van den Born, I., Sodi, A., Virgili, G., Gosheva, M., Pach, J., Zundorf, I., Zrenner, E., Gekeler, F., 2020. Transcorneal electrical stimulation for the treatment of retinitis pigmentosa – a multicenter safety study of the OkuStim® System (TESOLA-study). Ophthalmic Research, 63(3), pp. 234-43. doi: 10.1159/000505001

Jolly, J. K., Bridge, H., MacLaren, R. E., 2019. Outcome Measures Used in Ocular Gene Therapy Trials: A Scoping Review of Current Practice. Frontiers in Pharmacology. doi: 10.3389/fphar.2019.01076

Jolly, J. K., Xue, K., Edwards, T. L., Groppe, M., MacLaren, R. E., 2019. Characterizing the natural history of visual function in choroideremia using microperimetry and multimodal retinal imaging. Investigative Ophthalmology and Vision Science, 58(12), pp. 5575-83. doi: 10.1167/iovs.17-22486

Xue, K., Jolly, J. K., Barnard, A. R., Rudenko, A., Salvetti, A. P., Patrício, M. I., Edwards, T. L., Groppe, M., Orlans, H. O., Tolmachova, T., Black, G. C., Webster, A. R., Lotery, A. J., Holder, G. E., Downes, S. M., Seabra, M. C., MacLaren, R. E., 2018. Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia. Nat. Med., 24, pp. 1507-1512. doi: 10.1038/s41591-018-0185-5

Edwards, T. L., Jolly, J. K., Groppe, M., Barnard, A. R., Cottriall, C.L., Tolmachova, T., Black, G. C., Webster, A. R., Lotery, A. J., Holder, G. E., Xue, K., Downes, S. M., Simunovic, M. P., Seabra, M. C., MacLaren, R. E., 2016. Visual Acuity after Retinal Gene Therapy for Choroideremia. N. Engl. J. Med., 374, pp. 1996-1998. doi: 10.1056/NEJMc1509501

About more genetic eye disease publications.