Survey of Ophthalmology, Journal Year: 2025, Volume and Issue: unknown
Published: March 1, 2025
Language: Английский
Molecular and Cellular Probes, Journal Year: 2025, Volume and Issue: 79, P. 102008 - 102008
Published: Jan. 18, 2025
Language: Английский
Citations
3
Pharmacological Research, Journal Year: 2025, Volume and Issue: unknown, P. 107638 - 107638
Published: Jan. 1, 2025
Language: Английский
Citations
3
The Lancet, Journal Year: 2025, Volume and Issue: 405(10479), P. 648 - 657
Published: Feb. 1, 2025
Language: Английский
Citations
3
Medizinische Genetik, Journal Year: 2025, Volume and Issue: 37(1), P. 11 - 18
Published: Feb. 6, 2025
Language: Английский
Citations
1
Clinical and Experimental Ophthalmology, Journal Year: 2025, Volume and Issue: unknown
Published: Feb. 27, 2025
Phototransduction, the process by which captured photons elicit electrical changes in retinal rod and cone cells, represents first neuronal step vision involves interactions between several highly specialised proteins. Pathogenic variants genes encoding many of these proteins can give rise to significant impairment, accounting for a substantial portion inherited disease. Such include RHO, OPN1LW, OPN1MW, GNAT1, GNAT2, GNB3, PDE6A, PDE6B, PDE6G, PDE6C, PDE6H, CNGA1, CNGB1, CNGA3, CNGB3, GRK1, SAG, ARR3, RGS9, RGS9BP, GUCY2D, GUCA1A SLC24A1. Many conditions have distinct mechanisms clinical features. They follow modes inheritance (including one case digenic, or tri-allelic, inheritance). Some also entail myopia. Rod phototransduction will be outlined, followed discussion diseases associated with genes. phenotypic features highlighted as well their prevalence large genotyped disease cohort.
Language: Английский
Citations
1
npj Genomic Medicine, Journal Year: 2025, Volume and Issue: 10(1)
Published: April 4, 2025
Language: Английский
Citations
1
medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown
Published: March 28, 2024
Abstract Purpose To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients. Design Retrospective study imaging data (55-degree blue-FAF on Heidelberg Spectralis) from Participants Patients with clinical molecularly confirmed diagnosis IRD who have undergone FAF 55-degree at Moorfields Eye Hospital (MEH) the Royal Liverpool (RLH) between 2004 2019. Methods 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 six graders subset patients based defined grading protocol to produce segmentation masks train an AI model, AIRDetect, which was then applied entire MEH dataset. Main Outcome Measures Quantitative including area mm 2 vessel metrics, analysed gene age, determine rate progression. AIRDetect feature detection validated Dice score precision/recall, respectively. Results A total 45,749 images 3,606 covering 170 genes automatically segmented using AIRDetect. Model-grader scores for hypo-AF, hyper-AF, vessels respectively 0.86, 0.72, 0.69, 0.68 0.65. The five largest hypo-AF areas CHM , ABCC6 ABCA4 RDH12 RPE65 mean per-patient 41.5, 30.0, 21.9, 21.4, 15.1 . hyper-AF BEST1 CDH23 MYO7A NR2E3 0.49, 0.45, 0.44, 0.39, 0.34 CRX EYS MYO7A, 3.63, 3.32, 2.84, 2.39, 2.16 Vessel density found be highest EFEMP1 TIMP3 RS1 PRPH2 (10.6%, 10.3%, 9.8%, 9.7%, 8.9%) lower Retinitis Pigmentosa (RP) Leber Congenital Amaurosis genes. Longitudinal analysis decreasing four RP ( RPGR, USH2A, RHO, ) fastest progressor -0.18 /year. Conclusions We conducted first large-scale cross-sectional longitudinal quantitative across diverse range IRDs novel approach.
Language: Английский
Citations
5
Ophthalmology Science, Journal Year: 2024, Volume and Issue: 5(2), P. 100652 - 100652
Published: Nov. 12, 2024
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.
Language: Английский
Citations
4
Klinische Monatsblätter für Augenheilkunde, Journal Year: 2025, Volume and Issue: unknown
Published: Jan. 14, 2025
Erbliche Netzhauterkrankungen führen häufig zu einer erheblichen Einschränkung des Sehvermögens und können in schweren Fällen zur Erblindung führen. Die Progression verläuft der Regel kontinuierlich, wenngleich die Geschwindigkeit Fortschreitens stark variieren kann. frühzeitige Diagnose erblichen Netzhauterkrankung ist daher für betroffenen Patienten ihre Angehörigen aufgrund möglichen Konsequenzen Berufs-, Lebens- Familienplanung von hoher Relevanz.
Citations
0
Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(2), P. 614 - 614
Published: Jan. 18, 2025
Pediatric macular disorders are a diverse group of inherited retinal diseases characterized by central vision loss due to dysfunction and degeneration the macula, region retina responsible for high-acuity vision. Common in this category include Stargardt disease, Best vitelliform dystrophy, X-linked retinoschisis. These conditions often manifest during childhood or adolescence, with symptoms such as progressive loss, photophobia, difficulty fine visual tasks. Underlying mechanisms involve genetic mutations that disrupt photoreceptor pigment epithelium function, accumulating toxic byproducts, impaired ion channel activity, structural degeneration. Advances imaging modalities like optical coherence tomography fundus autofluorescence have improved diagnostic accuracy disease monitoring. Emerging therapies transforming treatment landscape. Gene therapy genome editing hold promise addressing basis these disorders, while stem cell-based approaches pharmacological interventions aim restore function mitigate damage. Personalized medicine, driven genomic sequencing, offers potential tailored interventions. Despite current challenges, ongoing research into molecular mechanisms, advanced imaging, innovative provides hope improving outcomes quality life children disorders.
Language: Английский
Citations
0