UCL Retinal Phenotyping

Without any doubt, THE highlight of our team's work over the last 10 years, using handheld OCT to objectively document outer retina structure. It may be a small part compared to our AOSLO work, but transformative for patients and their families.

🧬 BREAKTHROUGH: IOB researchers have identified a new genetic cause of inherited blindness in previously unexplored regions of the genome. Published today in @NatureGenet 🧵Thread ⬇️

We are happy to launch our latest Annual Review, highlighting our achievements during the 2024-2025 academic year. You can access the full content on our website: ucl.ac.uk/brain-sciences…

As 2025 draws to a close, join us in reflecting on some of the incredible breakthroughs from the Faculty this year! 👁️ In February, a procedure developed by researchers from @UCLeye gave infants life-changing improvements in sight. ucl.ac.uk/news/2025/feb/…

Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR - go.shr.lc/4jvu4AY

Spread the voice 📣 Join us on Nov 18 for an online webinar on science outreach! Hear from researchers, journalists, and science communicators about how to share science effectively with diverse audiences. @eLife @EMBO @HFSP #ScienceCommunication #SciOutreach #Webinar

Nikolas Pontikos et al. @UCLeye investigate combining information retrieval with text generation using Retrieval-Augmented Generation to benchmark the performance of open-source and proprietary generative LLMs in question-answering in ophthalmology. doi.org/10.1167/tvst.1…

Review article by Alexis Ceecee Britten-Jones et al. from The University of Melbourne provides an update on the recent progress in the diagnosis, management, and treatments for Stargardt disease. doi.org/10.1167/tvst.1…

Michel Michaelides et al. from Moorfields Eye Hospital @UCLeye describe the largest cohort of RHO-associated retinitis pigmentosa (RP) to date, analyzing the spectrum of phenotypes, variants, disease natural history, and genotype-phenotype correlations. doi.org/10.1167/iovs.6…

Omar Mahroo et al. @UCLeye explore Discrepancies Between Autofluorescence Imaging Modalities in CNGB3-Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity, tvst.arvojournals.org/article.aspx?a….

Excited to see advancements in retinal research for X-linked retinitis pigmentosa. The community urges Johnson & Johnson to seek approval for its XLRP gene therapy, offering hope to patients. fightingblindness.org/news/retinal-r… @MichelMichaelid @UCL_Retina

Allison Ayala et al. share their Functional Vision Assessment Over 4 Years in USH2A Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire, iovs.arvojournals.org/article.aspx?a…. @JaebCenter @UMKelloggEye @UCSF @FightBlindness @MassEyeAndEar @UCLeye @BCMDeptMedicine

Image of the Week: Milky Way Spiral Milky Way dust emission as measured from the Planck satellite and converted into a polarization pattern of B-modes, a spiral type of polarization imprinted in the microwave sky. Read more here: bit.ly/3Uj2QCf #Milkyway #emission

Stop by my poster B0500 today at #ARVO2025 to see high-resolution AOSLO retinal imaging in Tyr gene-edited 13-lined ground squirrels and learn more about the germline inheritance of their mutations! Grateful for my support from @MCW_CBNA, @MCW_GSA and @NatEyeInstitute

Michel Michaelides et al. study the Distance From the Foveal Center: A Method for the Calculation of Eccentric Fixation, tvst.arvojournals.org/article.aspx?a…. @ucl_retina @UCLeye @Moorfields

Michel Michaelides et al. provide Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome, iovs.arvojournals.org/article.aspx?a…. @Moorfields @UCLeye @UCL_Retina

Great to hear our Deputy Director Professor Alison Hardcastle in the video of the launch event of a new Centre of Excellence for eye health in Warsaw. Funded by @HorizonEU, this is a strategic partnership between @UCLeye, @ICTER_PL & @InstVisionParis. ucl.ac.uk/ioo/news/2025/…

In the latest Eye on the Cure podcast, Professor Michel Michaelides, a leading clinical researcher at Moorfields Eye Hospital and University College London, joins host Ben Shaberman to discuss groundbreaking advancements in gene therapy. Hear about the extraordinary vision improvements seen in young children receiving treatment for Leber congenital amaurosis 4 (LCA4), as well as promising therapies in clinical trials for X-linked retinitis pigmentosa and Stargardt disease. 🎧 Don’t miss this exciting conversation—listen now. bit.ly/41TdL8S

Ivana Mihalek et al. present their work Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging, tvst.arvojournals.org/article.aspx?a….

Great to see the new genetic treatment developed at @UCLeye and @Moorfields, with the support of @MeiraGTx, featured in the latest @UCL_Business's Impact Report (on page 11). uclb.com/impact/

‘LCA4 Gene Therapy Restores Meaningful Vision for Blind Children’ is on #SoundCloud on.soundcloud.com/TmruW1wskoa55C… @FightBlindness @MichelMichaelid