Results 71 to 80 of about 10,317 (215)

Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration.
Na Li, Yalong Dang
wiley   +1 more source

Assessment of In‐Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning

Human Mutation, Volume 2026, Issue 1, 2026.
The standard for in silico pathogenicity prediction of in‐frame insertions and deletions (indels) is less established compared to other types of variations. We aimed to systematically assess the performance of in silico machine learning (ML) tools on a patient cohort with inherited retinal diseases (IRDs). The performance of four ML tools (CADD, FATHMM‐
David E. Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C. Brock, Yumei Li, Molly Marra, Mark E. Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen, Feng Gu   +14 more
wiley   +1 more source

Multimodal in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease

Frontiers in Ophthalmology
PurposeTo characterize retinal structural biomarkers for progression in adult-onset Stargardt disease from multimodal retinal imaging in-vivo maps.MethodsSeven adult patients (29–69 years; 3 males) with genetically-confirmed and clinically diagnosed ...
Hilde R. Pedersen, Stuart J. Gilson, Lene A. Hagen, Josephine Prener Holtan, Josephine Prener Holtan, Ragnheidur Bragadottir, Ragnheidur Bragadottir, Rigmor C. Baraas   +7 more
doaj   +1 more source

The Clinical Significance of Imaging Biomarkers Discoverable by Anomaly Detection Methods in Retinal Diseases: A Review

Journal of Ophthalmology, Volume 2026, Issue 1, 2026.
Introduction The increasing prevalence of vision‐threatening retinal diseases poses a growing challenge on healthcare systems worldwide, underscoring the need for effective strategies in disease diagnosis and management. Unsupervised artificial intelligence (AI) approaches, such as anomaly detection, offer the potential to identify established and ...
Anna M. Wittmann, Philipp Seeböck, Katharina A. Heger, Daniel Egger, Georg Langs, Sebastian M. Waldstein, Shweta Negi   +6 more
wiley   +1 more source

Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD) [PDF]

, 2008
The literature of the last three decades is replete with automatic methods for retinal image analysis. Acceptance has been limited due to post-processing or tuning requirements that may be just as time consuming as the original manual methods.
Busuioc, Mihai, Chen, Jian, Laine, Andrew F., Lee, Noah, Smith, R. Theodore   +4 more
core   +2 more sources

Scientific Opinion on the tolerable upper intake level for supplemental docosahexaenoic acid

EFSA Journal, Volume 24, Issue 1, January 2026.
Abstract Following a request from the European Commission, the Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver a scientific opinion on the revision of the safe level of intake for supplemental docosahexaenoic acid (DHA).
EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA), Dominique Turck, Torsten Bohn, Montaña Cámara, Jacqueline Castenmiller, Stefaan de Henauw, Karen‐Ildico Hirsch‐Ernst, Angeles Jos, Alexandre Maciuk, Inge Mangelsdorf, Breige McNulty, Androniki Naska, Kristina Pentieva, Frank Thies, Alfonso Siani, Ionut Craciun, Silvia Valtueña Martínez   +17 more
wiley   +1 more source

Inferred retinal sensitivity in recessive Stargardt disease using machine learning

Scientific Reports, 2021
Spatially-resolved retinal function can be measured by psychophysical testing like fundus-controlled perimetry (FCP or ‘microperimetry’). It may serve as a performance outcome measure in emerging interventional clinical trials for macular diseases as ...
Philipp L. Müller, Alexandru Odainic, Tim Treis, Philipp Herrmann, Adnan Tufail, Frank G. Holz, Maximilian Pfau   +6 more
doaj   +1 more source

Ocular toxicity due to 4-aminoquinoline derivatives [PDF]

, 2007
Retinal toxicity of chloroquine has been extensively studied since its first description in 1957. This drug is used on a chronic basis to treat several rheumatologic and dermatologic diseases, a there is a trend to use hydroxychloroquine rather than ...
Gouveia, Enéias Bezerra, Gouveia, Gedeão Bezerra, Lourenzi, Valeria Pinheiro M., Morales, Maira Saad De Ávila   +3 more
core   +2 more sources

Colour Vision in Stargardt Disease

Ophthalmic Research, 2015
<b><i>Purpose:</i></b> To investigate the type and severity of acquired colour vision deficiencies (CVDs) in molecularly proven Stargardt disease (STD) and to establish whether a relationship exists between best-corrected visual acuity (BCVA) and full-field electroretinography (ffERG), and the degree of CVD.
Tine Vandenbroucke, Ronald Buyl, Julie De Zaeytijd, Miriam Bauwens, André Uvijls, Elfride De Baere, Bart P. Leroy   +6 more
openaire   +2 more sources

Strategy and Development in Pharmacy Holding Companies: Enhancing Sustainable Lifestyle and Unlocking New Business Opportunities

Business Strategy &Development, Volume 8, Issue 4, December 2025.
ABSTRACT The creation of pharmacy holding companies today is not merely a strategic choice but increasingly a necessity, driven by evolving market dynamics, regulatory changes, and the growing complexity of management. This paper explores how these companies can play a transformative role by enhancing sustainable lifestyles and unlocking new business ...
Idiano D'Adamo, Simona Desideri, Massimo Gastaldi, Martina Iannilli, Federico Marinangeli   +4 more
wiley   +1 more source