Results 41 to 50 of about 67,593 (295)

Retrograde and Anterograde Optic Atrophy

, 2021
Summary: • Optic atrophy represents damage to nerve\u27s axon or cell body o Can happen in the anterograde/orthograde or retrograde direction o Ophthalmoscopic finding of optic atrophy is due to Wallerian degeneration of the optic nerve axon o Results in
Andrew G. Lee, MD; Alicia Chen
core  

Derivation and characterization of retinal pigment epithelium from urine‐derived iPSCs

FEBS Open Bio, EarlyView.
Age‐related macular degeneration causes vision loss via RPE dysfunction and loss. Traditional iPSC therapies rely on invasive biopsies, limiting scalability. Here, we utilize urine‐derived stem cells as an accessible source to generate u‐iPSCs, successfully differentiated into pigmented RPE. This “Urine‐to‐Retina” platform provides a promising path for
Daniella Beiner, Hainan Zhu, Carol Christine Bosholm, Heuy‐Ching Wang, Tracy Criswell, Anthony Atala, Jian‐Xing Ma, Yuanyuan Zhang   +7 more
wiley   +1 more source

Unusual ocular manifestation in Wolfram syndrome

Indian Journal of Ophthalmology. Case Reports
Wolfram syndrome (WS), also known as diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), is a rare neurodegenerative disease. Bilateral optic atrophy is the most common ocular manifestation of the syndrome.
Sowmya Raveendra Murthy, Mansi Mistry, Disha Agarwal   +2 more
doaj   +1 more source

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

American Journal of Ophthalmology Case Reports
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. Observations: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment,
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon   +5 more
doaj   +1 more source

α-Synuclein pathology in post-mortem retina and optic nerve is specific for α-synucleinopathies

npj Parkinson's Disease, 2023
There is increasing interest in studying retinal biomarkers for various neurodegenerative diseases. Specific protein aggregates associated with neurodegenerative diseases are present in the retina and could be visualised in a non-invasive way. This study
Frederique J. Hart de Ruyter, Tjado H. J. Morrema, Jurre den Haan, Gina Gase, Jos W. R. Twisk, Johannes F. de Boer, Philip Scheltens, Femke H. Bouwman, Frank D. Verbraak, Annemieke J. M. Rozemuller, Jeroen J. M. Hoozemans   +10 more
doaj   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome

Journal of Current Ophthalmology, 2015
Purpose: To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. Case report: A 19-year-old female patient, a known case of diabetes mellitus type I from six years before,
Nasrollah Maleki, Bahman Bashardoust, Anahita Zakeri, Azita Salehifar, Zahra Tavosi   +4 more
doaj   +1 more source