Results 161 to 170 of about 91,835 (382)

Corticosteroid-induced ocular hypertension. II. An acquired form. [PDF]

, 1982
A O Akingbehin
openalex   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Rational use of the fixed combination of dorzolamide – timolol in the management of raised intraocular pressure and glaucoma

Clinical Ophthalmology, 2008
Jason Yeh1, Daniel Kravitz2, Brian Francis11Doheny Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; 2Tulane University, School of Medicine, New Orleans, LA, USAAbstract: Glaucoma is a multifactorial optic ...
Jason Yeh, Daniel Kravitz, Brian Francis
doaj  

Harnessing the power of longitudinal medical imaging for eye disease prognosis using Transformer-based sequence modeling [PDF]

arXiv
Deep learning has enabled breakthroughs in automated diagnosis from medical imaging, with many successful applications in ophthalmology. However, standard medical image classification approaches only assess disease presence at the time of acquisition, neglecting the common clinical setting of longitudinal imaging.
arxiv  

Ocular hypertension: Correlation of anterior chamber angle width and risk of progression to glaucoma [PDF]

, 1992
P K Wishart, Mark Batterbury
openalex   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Case report: Cilioretinal artery occlusion combined with central retinal vein occlusion as the initial presentation of pulmonary arterial hypertension

Frontiers in Medicine
BackgroundPulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to systemic venous hypertension and potential right heart failure. These elevated pressures can extend to ocular veins,
Yane Gao, Yane Gao, Xiaofeng Xie, Jiao Li, Qingshuai Mu, Xingrong Wang, Xingrong Wang, Shuya Wang   +7 more
doaj   +1 more source

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa, Maura Guyler, Krystal L. Tomei, Howard D. Wang   +3 more
wiley   +1 more source

Eye2Heart : a validated lumped-parameter model bridging cardiovascular and ocular dynamics [PDF]

arXiv
The cardiovascular and ocular systems are intricately connected, with hemodynamic interactions playing a crucial role in both physiological regulation and pathological conditions. However, existing models often treat these systems separately, limiting the understanding of their interdependence.
arxiv  

Correlations between optical coherence tomography, pattern ERG and visual evoked potentials in patients with ocular hypertension and open angle glaucoma [PDF]

, 1999
Gianluca Manni, Vincenzo Parisi, Stefano Gandolfi, M. Centofantil, Gaspare Colacino, S. Marchi, Massimo G. Bucci   +6 more
openalex   +1 more source