Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom

• DOI: 10.1016/j.xops.2024.100652
• Publication Date: 2024-11-12T20:34:50Z
• Authors: William A. Woof; Thales A.C. de Gu...; Saoud Al-Khuzaei; Malena Daich Varela; Sagnik Sen; Pallavi Bagga; Bernardo Mendes; Mital Shah; Paula Burke; David Parry; Siying Lin; Gunjan Naik; Biraja Ghoshal; Bart J. Liefers; Dun Jack Fu; Michalis Georgiou; Quang Nguyen; Alan Sousa da Silva; Yichen Liu; Yu Fujinami-Yokokawa; Dayyanah Sumodhee; Praveen Patel; Jennifer Furman; Ismail Moghul; Mariya Moosajee; Juliana Sallum; Samantha R. De Silva; Birgit Lorenz; Frank G. Holz; Kaoru Fujinami; Andrew R. Webster; Omar A. Mahroo; Susan M. Downes; Savita Madhusudhan; Konstantinos Bala...; Michel Michaelides; Nikolas Pontikos
• Keywords: Autofluorescence; Fundus (uterus)

To quantify relevant fundus autofluorescence (FAF) features cross-sectionally and longitudinally in a large cohort of patients with inherited retinal diseases (IRDs). Retrospective study imaging data. Patients clinical molecularly confirmed diagnosis IRD who have undergone 55° FAF at Moorfields Eye Hospital (MEH) the Royal Liverpool between 2004 2019. Five interest were defined: vessels, optic disc, perimacular ring increased signal (ring), relative hypo-autofluorescence (hypo-AF), hyper-autofluorescence (hyper-AF). Features manually annotated by 6 graders subset based on defined grading protocol to produce segmentation masks train an artificial intelligence model, AIRDetect, which was then applied entire data set. Quantitative features, including area vessel metrics, analyzed gene age, longitudinally. AIRDetect feature detection validated Dice score precision/recall, respectively. A total 45 749 images from 3606 MEH covering 170 genes automatically segmented using AIRDetect. Model-grader scores for hypo-AF, hyper-AF, ring, vessels were, respectively, 0.86, 0.72, 0.69, 0.68, 0.65. Across presentation, 5 largest hypo-AF areas CHM, ABCC6, RDH12, ABCA4, RPE65, mean per-patient 43.72, 29.57, 20.07, 19.65, 16.92 mm2, The hyper-AF BEST1, CDH23, NR2E3, MYO7A, 0.50, 047, 0.44, 0.38, 0.33 CRX, EYS, PDE6B, 3.60, 2.90, 2.89, 2.56, 2.20 Vessel density found be highest EFEMP1, TIMP3, RS1, PRPH2 (11.0%, 10.4%, 10.1%, 9.2%) lower retinitis pigmentosa (RP) Leber congenital amaurosis genes. Longitudinal analysis decreasing 4 RP (RPGR, USH2A, RHO, EYS) EYS fastest progressor -0.178 mm2/year. We conducted first large-scale cross-sectional longitudinal quantitative across diverse range IRDs novel AI approach. Proprietary or commercial disclosure may Footnotes Disclosures end this article.