Results 91 to 100 of about 8,209 (195)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Optic Nerve Hypoplasia – Case Report

International Medical Case Reports Journal
Jan Lestak, Lenka Prazakova, Martin Fus, Martin Kyncl Faculty of Biomedical Engineering, Czech Technical University in Prague, Kladno, 272 01, Czech RepublicCorrespondence: Jan Lestak, Faculty of Biomedical Engineering, Czech Technical University in ...
Lestak J, Prazakova L, Fus M, Kyncl M
doaj  

A cis-regulatory module underlies retinal ganglion cell genesis and axonogenesis

Cell Reports
Summary: Atoh7 is transiently expressed in retinal progenitor cells (RPCs) and is required for retinal ganglion cell (RGC) differentiation. In humans, a deletion in a distal non-coding regulatory region upstream of ATOH7 is associated with optic nerve ...
Kamakshi Mehta, Marwa Daghsni, Reza Raeisossadati, Zhongli Xu, Emily Davis, Abigail Naidich, Bingjie Wang, Shiyue Tao, Shaohua Pi, Wei Chen, Dennis Kostka, Silvia Liu, Jeffrey M. Gross, Takaaki Kuwajima, Issam Aldiri   +14 more
doaj   +1 more source

Optical Coherence Tomography Can Predict Visual Acuity in Children with Optic Nerve Hypoplasia. [PDF]

Clin Ophthalmol, 2022
Skriapa-Manta A, Nilsson M, Svoboda J, Olsson M, Nilsson M, Teär Fahnehjelm K.   +5 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

Beyond the Golden Gleam: The Silent Spiral of Straatsma Syndrome

Delhi Journal of Ophthalmology
The presence of myelinated nerve fibers (MNFs) is usually a benign and isolated finding but it could present with other ophthalmic conditions rarely such as nystagmus, myopia, strabismus, and optic nerve hypoplasia.
Tanya Jain, Anju Bansal, Apoorv Grover, Brajesh Kumar   +3 more
doaj   +1 more source

Selected Ophthalmological Features in Children with Septo-Optic Dysplasia and Optic Nerve Hypoplasia. [PDF]

Neuroophthalmology, 2022
Salman MS, Hossain S, Carson E, Ruth CA, Clark IH.   +4 more
europepmc   +1 more source

Neurodegenerative Diseases: Epidemiology, Risk Factors, Classification, Pathophysiology, Clinical Features, Diagnosis, and Therapeutic Strategies

MedComm, Volume 7, Issue 11, November 2026.
Neurodegenerative diseases share convergent risk architectures and pathological mechanisms, yet diverge in selective vulnerability, clinical presentation, and therapeutic responsiveness. This review integrates cross‐disease epidemiology, pathophysiology, diagnosis, and treatment, highlighting the transition from symptomatic care toward biomarker‐guided
Zimeng He, Jingjing Zeng, Guoqing Wang, Yuxin Li, Feng Zhang   +4 more
wiley   +1 more source

Stress-Induced Oculogyric Crisis in Septo-Optic Dysplasia: Case Report

Case Reports in Ophthalmology
Introduction: Oculogyric crisis (OGC) is a dystonic movement disorder of varying durations that manifests as bilateral paroxysmal upward eye deviation accompanied by involuntary blinking, tongue protrusion, and autonomic symptoms. Separately, septo-optic
Phillip Keys, Pamela Davila-Siliezar, Noor Laylani, Andrew G. Lee   +3 more
doaj   +1 more source

Hypoplasia of the optic nerve. [PDF]

British Journal of Ophthalmology, 1969
K L, Macoul, A, Dellaporta, L C, Miller
openaire   +2 more sources