Results 121 to 130 of about 6,088 (212)

Papillary and Peripapillary Hemorrhages in Eyes With Pathologic Myopia. [PDF]

Invest Ophthalmol Vis Sci, 2022
Xiong J, Du R, Xie S, Lu H, Chen C, Lgarashi-Yokoi T, Uramoto K, Onishi Y, Yoshida T, Kamoi K, Ohno-Matsui K.   +10 more
europepmc   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Whole-Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia. [PDF]

Mol Genet Genomic Med
Xie QL, Wang Q, Liu Y, Huang T, Li J.
europepmc   +1 more source

The impacts of high refractive errors on self‐reported visual function and visual concern

Acta Ophthalmologica, Volume 104, Issue 7, Page 780-788, November 2026.
Abstract Purpose To examine the association between refractive errors and self‐reported visual function and visual concern, considering self‐perceived present eyesight, concerns about vision, accomplishing less and limitations in daily activities in an eye‐healthy cohort.
Jens Riis Møller, Arevak Saruhanian, Jens Rovelt, Josefine Freiberg, Marcel Reimann, Jeppe Nygård Samuelsen, Christina Eckmann‐Hansen, Miriam Kolko, Nina Jacobsen, FOREVER Consortium   +9 more
wiley   +1 more source

Spontaneous Pathologic Myopia and Contributing Factors in Nonhuman Primate Models. [PDF]

Transl Vis Sci Technol
Tian J, Liu W, Yang C, Zhu Y, Hou S, Zhuo Y, Wu J, Wang N.   +7 more
europepmc   +1 more source

Performances of artificial intelligence in detecting pathologic myopia: a systematic review and meta-analysis. [PDF]

Eye (Lond), 2023
Zhang Y, Li Y, Liu J, Wang J, Li H, Zhang J, Yu X.   +6 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2161-2165, October 2026.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Peripapillary Optical Coherence Tomography Artifacts in Pathologic Myopia: Prevalence and Impact on Glaucoma Diagnosis. [PDF]

J Glaucoma
Xiang Y, Luo N, Ye L, Huang J, Cheng L, Yan Y, Zhao M, Han Y, Huang J.   +8 more
europepmc   +1 more source

Deconstruction of Human Age‐Related Cataract Capsules Defines Aging

Advanced Science, Volume 13, Issue 55, 5 October 2026.
We generate a comprehensive atlas of age‐related cataracts (ARC) at a single‐cell resolution, encompassing three disease states—mild cataract group (Mild), severe cortical cataract group (Severe_C), and severe nuclear cataract group (Severe_N). We find that ARC involves seven distinct lens capsule cell types, with notable differences in cellular ...
Qiaomei Tang, Ziyang Tong, Chunmei Fan, Silong Chen, Jiarui Guo, Jianghua Hu, Ke Yao, Zi Yin, Xiao Chen, Yibo Yu   +9 more
wiley   +1 more source

Artificial intelligence for pathologic myopia classification based on the META-PM system: a systematic review and meta-analysis. [PDF]

Front Physiol
Hu Y, Wang X, Ji Y, Chen Y, Liang Z, Wu S, Lai M, Yang W.   +7 more
europepmc   +1 more source