MRFF - Developing Personalised Treatment for Retinal Degeneration - Research output

2025

Evaluating ocular health in retinal gene therapies

Kwok, E., Alam, K., Lim, J., Niyazmand, H., Tang, V., Trinh, H., Chen, F. K. & Charng, J., 16 Feb 2025, (E-pub ahead of print) In: Clinical and Experimental Optometry. 12 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

2024

Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT

Heath Jeffery, R. C., Lo, J., Thompson, J. A., Lamey, T. M., McLaren, T. L., De Roach, J. N., Ayton, L. N., Vincent, A. L., Sharma, A. & Chen, F. K., Feb 2024, In: Ophthalmology Retina. 8, 2, p. 174-183 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Citations (Scopus)

A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31

Grainok, J., Pitout, I. L., Chen, F. K., McLenachan, S., Heath Jeffery, R. C., Mitrpant, C. & Fletcher, S., 16 Mar 2024, In: International Journal of Molecular Sciences. 25, 6, 19 p., 3391.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

Cytokine Levels in Experimental Branch Retinal Vein Occlusion Treated With Either Bevacizumab or Triamcinolone Acetonide

McAllister, I. L., Vijayasekaran, S., McLenachan, S., Bhikoo, R., Chen, F. K., Zhang, D., Kanagalingam, E. & Yu, D. Y., Jun 2024, In: Translational vision science & technology. 13, 6, 20 p., 13.

Research output: Contribution to journal › Article › peer-review

Open Access

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Zhang, D., Jennings, L., Chen, S. C., Zaw, K., Lamey, T. M., Thompson, J. A., McLaren, T. L., Chen, F. K. & McLenachan, S., Aug 2024, In: Stem Cell Research. 78, 5 p., 103461.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Macular neovascularization in inherited retinal diseases: A review

Heath Jeffery, R. C. & Chen, F. K., 1 Jan 2024, In: Survey of Ophthalmology. 69, 1, p. 1-23 23 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

7 Citations (Scopus)

Nonlinear Reduction in Hyperautofluorescent Ring Area in Retinitis Pigmentosa

Charng, J., Escalona, I. A. V., Turpin, A., McKendrick, A. M., Mackey, D. A., Alonso-Caneiro, D. & Chen, F. K., 4 Mar 2024, (E-pub ahead of print) In: Ophthalmology Retina. 8, 3, p. 298-306 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

File

4 Citations (Scopus)

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study

Ramakrishnan, P., Kenworthy, M. K., Alexis, J. A., Thompson, J. A., Lamey, T. M. & Chen, F. K., Oct 2024, In: Documenta Ophthalmologica. 149, 2, p. 115-123 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Rapid Variant Pathogenicity Analysis by CRISPR Activation of CRB1 Gene Expression in Patient-Derived Fibroblasts

Moon, S. Y., Zhang, D., Chen, S. C., Lamey, T. M., Thompson, J. A., McLaren, T. L., Chen, F. K. & McLenachan, S., Apr 2024, In: CRISPR Journal. 7, 2, p. 100-110 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

Heath Jeffery, R. C., Thompson, J. A., Lo, J., Chelva, E. S., Armstrong, S., Pulido, J. S., Procopio, R., Vincent, A. L., Bianco, L., Battaglia Parodi, M., Ziccardi, L., Antonelli, G., Barbano, L., Marques, J. P., Geada, S., Carvalho, A. L., Tang, W. C., Chan, C. M., Boon, C. J. F. & Hensman, J. & 22 others, Chen, T.-C., Lin, C.-Y., Chen, P.-L., Vincent, A., Tumber, A., Heon, E., Grigg, J. R., Jamieson, R. V., Cornish, E. E., Nash, B. M., Borooah, S., Ayton, L. N., Britten-Jones, A. C., Edwards, T. L., Ruddle, J. B., Sharma, A., Porter, R. G., Lamey, T. M., McLaren, T. L., McLenachan, S., Roshandel, D. & Chen, F. K., 1 May 2024, In: Investigative ophthalmology & visual science. 65, 5, 17 p., 22.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Citations (Scopus)

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Hitti-Malin, R. J., Panneman, D. M., Corradi, Z., Boonen, E. G. M., Astuti, G., Dhaenens, C. M., Stöhr, H., Weber, B. H. F., Sharon, D., Banin, E., Karali, M., Banfi, S., Ben-Yosef, T., Glavač, D., Farrar, G. J., Ayuso, C., Liskova, P., Dudakova, L., Vajter, M. & Ołdak, M. & 40 others, Szaflik, J. P., Matynia, A., Gorin, M. B., Kämpjärvi, K., Bauwens, M., De Baere, E., Hoyng, C. B., Li, C. H. Z., Klaver, C. C. W., Inglehearn, C. F., Fujinami, K., Rivolta, C., Allikmets, R., Zernant, J., Lee, W., Podhajcer, O. L., Fakin, A., Sajovic, J., AlTalbishi, A., Valeina, S., Taurina, G., Vincent, A. L., Roberts, L., Ramesar, R., Sartor, G., Luppi, E., Downes, S. M., van den Born, L. I., McLaren, T. L., De Roach, J. N., Lamey, T. M., Thompson, J. A., Chen, F. K., Tracewska, A. M., Kamakari, S., Sallum, J. M. F., Bolz, H. J., Kayserili, H., Roosing, S. & Cremers, F. P. M., 19 Mar 2024, In: Biomolecules. 14, 3, 20 p., 367.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

2023

Advances towards personalized therapies for Stargardt disease

Huang, D., McLenachan, S. & Chen, F. K., 2023, In: Expert Review of Ophthalmology. 18, 5, p. 315-325 11 p.

Research output: Contribution to journal › Review article › peer-review

Benefits of a Laser Chorioretinal Anastomosis Plus Ranibizumab vs Ranibizumab Alone for Central Retinal Vein Occlusion: 4-Year Results

Allister, I. L. M., Smithies, L. A., Chen, F. K., Mackey, D. A. & Sanfilippo, P. G., Aug 2023, In: American Journal of Ophthalmology. 252, p. 101-110 10 p.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Deep learning: applications in retinal and optic nerve diseases

Charng, J., Alam, K., Swartz, G., Kugelman, J., Alonso-Caneiro, D., Mackey, D. & Chen, F., 2023, In: Clinical and Experimental Optometry. 106, 5, p. 466-475 10 p.

Research output: Contribution to journal › Review article › peer-review

4 Citations (Scopus)

Incidence and Mortality of Conjunctival Melanoma in Australia (1982 to 2014)

Beasley, A. B., Preen, D. B., McLenachan, S., Gray, E. S. & Chen, F. K., 1 Nov 2023, In: Investigative ophthalmology & visual science. 64, 14, p. 2 1 p., 2.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Inner Retinal Changes in Acute Experimental BRVO Treated With Bevacizumab or Triamcinolone Acetonide

McAllister, I. L., Vijayasekaran, S., Bhikoo, R., Chen, F. K., Zhang, D., Kanagalingam, E., McLenachan, S. & Yu, D. Y., 1 Feb 2023, In: Translational Vision Science and Technology. 12, 2, 11.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy

Heath Jeffery, R. C., Thompson, J. A., Lamey, T. M., McLaren, T. L., De Roach, J. N., McAllister, I. L., Constable, I. J. & Chen, F. K., Jan 2023, In: Ophthalmology Retina. 7, 1, p. 81-91 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Citations (Scopus)

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers

Roshandel, D., Lamey, T. M., Charng, J., Heath Jeffery, R. C., McLaren, T. L., Thompson, J. A., De Roach, J. N., McLenachan, S., Mackey, D. A. & Chen, F. K., Jan 2023, In: Investigative ophthalmology & visual science. 64, 1, p. 3 12 p., 3.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy

Huang, Z., Zhang, D., Chen, S. C., Huang, D., Mackey, D., Chen, F. K. & McLenachan, S., May 2023, In: Cells. 12, 10, 1358.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases

Ashourizadeh, H., Fakhri, M., Hassanpour, K., Masoudi, A., Jalali, S., Roshandel, D. & Chen, F. K., 19 Jul 2023, In: Diagnostics. 13, 14, 2413.

Research output: Contribution to journal › Review article › peer-review

Open Access

3 Citations (Scopus)

Peripapillary hyperreflective ovoid mass-like structures: Multimodal imaging-A review

Jeffery, R. C. H. & Chen, F. K., 1 Jan 2023, In: Clinical and Experimental Ophthalmology. 51, 1, p. 67-80 14 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

14 Citations (Scopus)

Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia

Mack, H. G., Britten-Jones, A. C., McGuinness, M. B., Chen, F. K., Grigg, J. R., Jamieson, R. V., Edwards, T. L., De Roach, J., O'Hare, F., Martin, K. R. & Ayton, L. N., Apr 2023, In: Gene Therapy. 30, 3-4, p. 336-346 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Citations (Web of Science)

2022

A comparison of deep learning U-Net architectures for posterior segment OCT retinal layer segmentation

Kugelman, J., Allman, J., Read, S. A., Vincent, S. J., Tong, J., Kalloniatis, M., Chen, F. K., Collins, M. J. & Alonso-Caneiro, D., Dec 2022, In: Scientific Reports. 12, 1, 1 p., 14888.

Research output: Contribution to journal › Article › peer-review

Open Access

50 Citations (Scopus)

Characterising splicing defects of ABCA4 variants within exons 13–50 in patient-derived fibroblasts

Huang, D., Thompson, J. A., Chen, S. C., Adams, A., Pitout, I., Lima, A., Zhang, D., Jeffery, R. C. H., Attia, M. S., McLaren, T. L., Lamey, T. M., De Roach, J. N., McLenachan, S., Aung-Htut, M. T., Fletcher, S., Wilton, S. D. & Chen, F. K., Dec 2022, In: Experimental Eye Research. 225, 9 p., 109276.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Choroidal Thickening during Young Adulthood and Baseline Choroidal Thickness Predicts Refractive Error Change

Lee, S. S. Y., Alonso-Caneiro, D., Lingham, G., Chen, F. K., Sanfilippo, P. G., Yazar, S. & Mackey, D. A., 2022, In: Investigative Ophthalmology and Visual Science. 63, 5, 34.

Research output: Contribution to journal › Article › peer-review

Open Access

22 Citations (Scopus)

Future perspectives of uveal melanoma blood based biomarkers

Beasley, A. B., Chen, F. K., Isaacs, T. W. & Gray, E. S., 1 Jun 2022, In: British Journal of Cancer. 126, 11, p. 1511-1528 18 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

31 Citations (Scopus)

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study

Kuht, H. J., Maconachie, G. D., Han, J., Kessel, L., Van Genderen, M. M., McLean, R. J., Hisaund, M., Tu, Z., Hertle, R. W., Gronskov, K., Bai, D., Wei, A., Li, W., Jiao, Y., Smirnov, V., Choi, J.-H., Tobin, M. D., Sheth BMedSci, V., Purohit, R. & Dawar, B. & 19 others, Girach, A., Strul, S., May, L., Chen, F. K., Heath Jeffery, R. C., Aamir, A., Sano, R., Jin, J., Brooks, B. P., Kohl, S., Arvelier, B., Montoliu, L., Engle, E. C., Proudlock, F. A., Nishad, G., Pani, P., Varma, G., Gottlob, I. & Thomas, M. G., Jun 2022, In: Ophthalmology. 129, 6, p. 708-718 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

38 Citations (Scopus)

Impact of Reference Center Choice on Adaptive Optics Imaging Cone Mosaic Analysis

Roshandel, D., Sampson, D. M., Mackey, D. A. & Chen, F. K., 1 Apr 2022, In: Investigative Ophthalmology and Visual Science. 63, 4, 2778762.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Citations (Scopus)

Intereye Symmetry in Bietti Crystalline Dystrophy

Liu, Z., Ayton, L. N., O'Hare, F., Arslan, J., Hu, M. L., Noar, A. P., Wang, J. H., Hickey, D. G., McGuinness, M. B., Vincent, A. L., Chen, F. K. & Edwards, T. L., Mar 2022, In: American Journal of Ophthalmology. 235, p. 313-325 13 p.

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Localised relative scotoma in cuticular drusen

Charng, J., Balaratnasingam, C., Attia, M. S., Heath Jeffery, R. C. & Chen, F. K., Jul 2022, In: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 260, 7, p. 2157-2164 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Measurement Properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) Instrument for People With Inherited Retinal Diseases

McGuinness, M. B., Britten-Jones, A. C., Ayton, L. N., Finger, R. P., Chen, F. K., Grigg, J. & Mack, H. G., 1 Feb 2022, In: Translational vision science & technology. 11, 2, p. 14 1 p., 14.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Citations (Scopus)

SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE

Jeffery, R. C. H., Thompson, J. A., Lo, J., Lamey, T. M., McLaren, T. L., De Roach, J. N., Azamanov, D. N., McAllister, I. L., Constable, I. J. & Chen, F. K., 1 Aug 2022, In: RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 42, 8, p. 1545-1559 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

Stargardt disease and progress in therapeutic strategies

Huang, D., Heath Jeffery, R. C., Aung-Htut, M. T., McLenachan, S., Fletcher, S., Wilton, S. D. & Chen, F. K., 2022, In: Ophthalmic Genetics. 43, 1, p. 1-26 26 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

30 Citations (Scopus)

Towards standardizing retinal optical coherence tomography angiography: a review

Sampson, D. M., Dubis, A. M., Chen, F. K., Zawadzki, R. J. & Sampson, D. D., Dec 2022, In: Light: Science and Applications. 11, 1, 63.

Research output: Contribution to journal › Review article › peer-review

Open Access

91 Citations (Scopus)

2021

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

Pappalardo, J., Heath Jeffery, R. C., Thompson, J. A., Chelva, E., Pham, Q., Constable, I. J., McLaren, T. L., Lamey, T. M., De Roach, J. N. & Chen, F. K., Aug 2021, In: Documenta Ophthalmologica. 143, 1, p. 61-73 13 p.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Classifying abca4 mutation severity using age-dependent ultra-widefield fundus autofluorescence-derived total lesion size

Heath Jeffery, R. C., Thompson, J. A., Lamey, T. M., Mclaren, T. L., Mcallister, I. L., Constable, I. J., Mackey, D. A., De Roach, J. N. & Chen, F. K., 1 Dec 2021, In: Retina. 41, 12, p. 2578-2588 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Citations (Scopus)

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

Roshandel, D., Thompson, J. A., Jeffery, R. C. H., Zhang, D., Lamey, T. M., McLaren, T. L., De Roach, J. N., McLenachan, S., Mackey, D. A. & Chen, F. K., Jun 2021, In: Genes. 12, 6, 915.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Citations (Scopus)

Data augmentation for patch-based OCT chorio-retinal segmentation using generative adversarial networks

Kugelman, J., Alonso-Caneiro, D., Read, S. A., Vincent, S. J., Chen, F. K. & Collins, M. J., Jul 2021, In: Neural Computing and Applications. 33, 13, p. 7393-7408 16 p.

Research output: Contribution to journal › Article › peer-review

21 Citations (Scopus)

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

McLenachan, S., Zhang, D., Grainok, J., Zhang, X., Huang, Z., Chen, S.-C., Zaw, K., Lima, A., Jennings, L., Roshandel, D., Moon, S. Y., Jeffery, R. C. H., Attia, M. S. A., Thompson, J. A., Lamey, T. M., McLaren, T. L., Roach, J. D., Fletcher, S. & Fred, F., Oct 2021, In: Genes. 12, 10, 1542.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Citations (Scopus)

Dose response in the subthreshold nanosecond laser trial in early stages of AMD: A LEAD study report

Cohn, A. C., Runciman, J., Hodgson, L. A. B., Caruso, E., Arnold, J. J., Chen, F. K., Chakravarthy, U., Heriot, W. J., Guymer, R. H. & Wu, Z., Jul 2021, In: Ophthalmic Surgery Lasers and Imaging Retina. 52, 7, p. 380-386 7 p.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

Roshandel, D., Thompson, J. A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M. S., Lamey, T. M., McLaren, T. L., De Roach, J. N., Mackey, D. A., Wilton, S. D., Fletcher, S., McLenachan, S. & Chen, F., 2021, In: Ophthalmic Genetics. 42, 1, p. 1-14 14 p.

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids

Zhang, X., Zhang, D., Thompson, J. A., Chen, S. C., Huang, Z., Jennings, L., McLaren, T. L., Lamey, T. M., De Roach, J. N., Chen, F. K. & McLenachan, S., Mar 2021, In: Molecular Genetics and Genomic Medicine. 9, 3, e1601.

Research output: Contribution to journal › Article › peer-review

Open Access

18 Citations (Scopus)

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

Huang, D., Zhang, D., Chen, S. C., Thandar Aung-Htut, M., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Fletcher, S., Wilton, S. D., McLenachan, S. & Chen, F. K., Jul 2021, In: Stem Cell Research. 54, 102439.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Zaw, K., Wong, E. Y. M., Zhang, X., Zhang, D., Chen, S. C., Thompson, J. A., Lamey, T., McLaren, T., De Roach, J. N., Wilton, S. D., Fletcher, S., Mitrpant, C., Atlas, M. D., Chen, F. K. & McLenachan, S., Jan 2021, In: Stem Cell Research. 50, 102129.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Huang, D., Zhang, D., Chen, S. C., Aung-Htut, M. T., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Fletcher, S., Wilton, S. D., Chen, F. K. & McLenachan, S., Jul 2021, In: Stem Cell Research. 54, 102448.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

Moon, S. Y., Zhang, D., Chen, S. C., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Chen, F. K. & McLenachan, S., Jul 2021, In: Stem Cell Research. 54, 102403.

Research output: Contribution to journal › Article › peer-review

Open Access