Results 51 to 60 of about 1,926 (144)

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions

European Journal of Neurology, Volume 32, Issue 5, May 2025.
GALC Defects and Neurodegenerative Impact: Exploring the role of GALC variants in adults with neurodegenerative symptoms and identifying an undiagnosed case of adult‐onset Krabbe disease. Metabolic Interplay: Focus on interrelated pathways as potential risk factors for neurodegeneration in heterozygous lysosomal storage disorder carriers.
Federica Feo, Luciana Tramacere, Silvia Ramat, Alessandra Govoni, Luca Caremani, Giulia Grigioni, Davide Mei, Silvia Falliano, Francesca Marin, Lorenzo Ferri, Antonella Paoli, Marina Rinaldi, Giancarlo la Marca, Daniela Ombrone, Elena Procopio, Renzo Guerrini, Amelia Morrone, Anna Caciotti   +17 more
wiley   +1 more source

Isolated abducens nerve palsy with hyperhomocysteinemia: Association and outcomes

Indian Journal of Ophthalmology, 2013
Ischemic abducens nerve palsy usually presents as isolated cranial nerve palsy in the middle aged and elderly patients with known risk factors such as diabetes mellitus, hypertension, dyslipidemia, carotid artery disease, etc., In this report, we ...
Virender Sachdeva, Vaibhev Mittal, Avinash Pathengay, Ramesh Kekunnaya, Amit Gupta, Bhoompally V Rao   +5 more
doaj   +1 more source

Progress in Translating Glaucoma Genetics Into the Clinic: A Review

Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 246-259, April 2025.
ABSTRACT Precision medicine is paving the way for personalised risk assessment, and its translation into glaucoma clinics holds potential to change current management paradigms. Our understanding of glaucoma's genetic architecture has expanded in recent years, recognising both monogenic and polygenic contributions.
Antonia Kolovos, Giorgina Maxwell, Emmanuelle Souzeau, Jamie E. Craig   +3 more
wiley   +1 more source

A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma.

Indian Journal of Ophthalmology, 2004
Primary open angle glaucoma (POAG) is the most common form of glaucoma and the second leading cause of blindness in the world. Discovery of the candidate gene MYOC (TIGR/MYOC) encoding the protein myocilin, believed to have a role in cytoskeletal ...
Kanagavalli J, Pandaranayaka E, Krishnadas Subbaiah, Krishnaswamy S, Sundaresan P   +4 more
doaj  

The relationship between vaccination and uveitis: A comprehensive review of immune response, risk assessment, and clinical implications

Eye &ENT Research, Volume 2, Issue 1, Page 5-17, March 2025.
The review illustrates the possible immune responses provoked by diverse vaccines, encompassing the hepatitis B virus vaccine, human papillomavirus vaccine, measles‐mumps‐rubella combined vaccine, COVID‐19 vaccine and hepatitis A vaccine. These reponses span activation of the immune system, hypersensitivity reactions, molecular mimicry, and the role of
Yihan Zhang, Tianyu Tao, Zhaohuai Li, He Li, Qi Jiang, Lei Zhu, Wenru Su   +6 more
wiley   +1 more source

Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1‐Related Disorder: A Case of Aicardi‐Goutières and Singleton Merten Syndromes Overlap

Special Care in Dentistry, Volume 45, Issue 2, March/April 2025.
ABSTRACT Objective This case report describes the prosthetic rehabilitation of a 15‐year‐old female patient with a rare IFIH1‐related interferonopathy, presenting features from both Aicardi‐Goutières Syndrome (AGS) and Singleton‐Merten Syndrome (SMS).
Clive Friedman, Timucin Ari, Gürkan Ünsal, Tugce Balci, Matthew Morrison, Nilgun Ari   +5 more
wiley   +1 more source

A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
ABSTRACT Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane.
Oscar F. Chacon‐Camacho, Thania Ordaz‐Robles, Marion A. Cid‐García, Olivia Yepes‐Rodríguez, Rocio Arce‐González, Alan Martínez‐Aguilar, Juan Carlos Zenteno   +6 more
wiley   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses.

Molecular vision, 2011
Purpose: To investigate the involvement of SPARC (secreted protein acidic and rich in cysteine) mutations and copy number variation in juvenile-onset primary open-angle glaucoma (JPOAG). Methods: This study involved the 27 family members from the GLC1M (glaucoma 1, open angle, M)-linked Philippine pedigree with JPOAG, 46 unrelated Chinese patients with
Chen, Li Jia, Tam, Pancy O.S., Tham, Clement C.Y., Liang, Xiao Ying, Chiang, Sylvia W.Y., Canlas, Oscar, Ritch, Robert, Rhee, Douglas J, Pang, Chi Pui   +8 more
openaire   +2 more sources

Glaucoma in Costa Rica: Initial approaches

Revista de Biología Tropical, 2004
Glaucoma is the second most frequent cause of irreversible blindness worldwide. Genetic factors have been implicated in the development of the disease.
Gabriela Chavarría-Soley, Bernd Rautenstrauss, Jorge Azofeifa   +2 more
doaj