Dr Ceecee Britten-Jones’ main research focus is on improving the diagnosis of inherited retinal diseases, which are rare genetic conditions that cause irreversible vision loss.
Her wider research areas include systematic reviews and meta-analyses, the impact of nutrition on ocular health, and the diagnosis and treatment of anterior eye diseases.
Ocular genetics research
Understanding genotype-phenotype correlations in inherited retinal diseases
Dr Britten-Jones is an investigator on the Victorian evolution of inherited retinal diseases (IRD) natural history registry (VENTURE), an Australian IRD registry that collects genotype and phenotype data to learn more about different IRDs. VENTURE is co-led by A/Prof Lauren Ayton and Dr Thomas Edwards at the University of Melbourne and Centre for Eye Research Australia.
Dr Britten-Jones’ specific research interest is investigating how different genetic variants cause disease. This includes using next generation sequencing to diagnose unsolved cases and investigating clinical characteristics caused by different DNA variants.
- Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O’Hare F, Hickey DG, Edwards TL, Ayton LN. The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review. Genet Med. 2022;24:521-534.
- Britten-Jones AC, O’Hare F, Edwards TL, Ayton LN, The VENTURE consortium. Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics. Clin Exp Ophthalmol. 2022.
Improving diagnostic support for people with genetic eye diseases
This research project aims to identify ways to support people with inherited retinal diseases during their diagnosis, such as genetic counselling and low vision support. This project also includes improving the knowledge of primary eyecare clinicians on the diagnosis and management of IRDs.
- Britten-Jones AC, Mack HG, Vincent AL, Hill LJ, Edwards TL, Ayton LN. Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand. Clin Genet. 2023. View article.
- Mack HG, Britten-Jones AC, McGuinness MB, Chen FK, Grigg JR, Jamieson RV, Edwards TL, De Roach J, O’Hare F, Martin KR, Ayton LN. Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia. Gene Ther. 2022 Oct 2; 1-11
Other Research themes
Systematic reviews and meta-analyses
Dr Britten-Jones has led and contributed to a number of systematic reviews, including Cochrane reviews. She has expertise in the methods used to synthesise evidence, both quantitative (meta-analyses) and qualitative (synthesis without meta-analysis).
- Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O’Hare F, Hickey DG, Edwards TE, Ayton L. The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A Systematic Review. Genet Med. 2022;24(3):521-534.
- Britten-Jones AC, Calder G, Busija L, Kamel JT, Roberts LJ, MacIsaac RJ, Downie LE. Omega-3 fatty acid supplementation for distal symmetrical peripheral neuropathy in people with diabetes mellitus: Protocol for a systematic review. Cochrane Database Syst Rev.
- Cote S, Zhang AC, Ahmadzai V, Maleken A, Li C, Oppedisano J, Nair K, Busija L, Downie LE. Intense pulsed light (IPL) therapy for the treatment of meibomian gland dysfunction. Cochrane Database Syst Rev. 2020;3:CD013559.
- Zhang AC, De Silva MEH, MacIsaac RJ, Roberts L, Kamel J, Craig JP, Busija L, Downie LE. Omega-3 polyunsaturated fatty acid oral supplements for improving peripheral nerve health: a systematic review and meta-analysis. Nutr Rev. 2020 Apr 1;78(4):323-341
Anterior eye health and dry eye disease
Dr Britten-Jones was a member of the Tear Film and Ocular Surface Society (TFOS) global workshop: A Lifestyle Epidemic, and has contributed to a number of works on improving the diagnosis and management of ocular surface diseases.
- Galor A, Britten-Jones AC, Feng Y, Ferrari G, Goldblum D, Gupta PK. et al. TFOS Lifestyle: Impact of lifestyle challenges on the ocular surface. Ocul Surf. 2023 Apr 11;28:262-303.
- Downie LE, Britten-Jones AC, Hogg R, Jalbert I, Li T, Lingham G. et al. TFOS lifestyle – Evidence quality report: Advancing the evaluation and synthesis of research evidence. Ocul Surf. 2023 Apr 11;28:200-212.
- Zhang AC, Muntz A, Wang MTM, Craig JP, Downie LE. Ocular Demodex: a systematic review of the clinical literature. Ophthalmic Physiol Opt. 2020;40:389-432.
Ocular nutrition and corneal neuropathy in diabetes
Dr Britten-Jones’ PhD research was on the role of omega-3 polyunsaturated fatty acids in modulating peripheral nerve health in type 1 diabetes, using corneal nerve health as a surrogate marker.
- Britten-Jones AC, Kamel JT, Roberts LJ, Braat S, Craig JP, MacIsaac RJ, Downie LE. Investigating the Neuroprotective Effect of Oral Omega-3 Fatty Acid Supplementation in Type 1 Diabetes (nPROOFS1): A Randomized Placebo-Controlled Trial. Diabetes. 2021;70:1794-1806.
- Britten-Jones AC, Craig JP, Anderson AJ, Downie LE. Association between systemic omega-3 polyunsaturated fatty acid levels, and corneal nerve structure and function. Eye. 2022; 1-8.
- Zhang AC, Downie LE. Preliminary Validation of a Food Frequency Questionnaire to Assess Long-Chain Omega-3 Fatty Acid Intake in Eye Care Practice. Nutrients. 2019;11.