Results 41 to 50 of about 8,209 (195)

Superior segmental optic nerve hypoplasia: A diagnostic challenge masquerading as normal-tension glaucoma

Indian Journal of Ophthalmology. Case Reports
Superior segmental hypoplasia of the optic nerve head is a rare, congenital anomaly of the optic nerve head. Clinically, superior pallor of the optic nerve head associated with the corresponding thinning of the nerve fiber layer, superior entry of the ...
Harsh Abhishekh, Nandini Banad, Priyanka Walvekar, Jenil Sheth   +3 more
doaj   +1 more source

Superior segmental optic hypoplasia as a differential diagnosis of glaucoma

Taiwan Journal of Ophthalmology, 2019
Superior segmental optic hypoplasia (SSOH) is a congenital anomaly affecting the optic nerve head and retina. Although the conventional characterization of SSOH emphasizes the relatively superior entrance of the central retinal artery, the pallor of the ...
Tetsuya Yamamoto
doaj   +1 more source

PRDM16 is necessary for sensory neuronal development and differentiation in the trigeminal ganglion

Developmental Dynamics, EarlyView.
Abstract Background Cranial neural crest cells (cNCC) generate craniofacial cartilage, bone, and peripheral neurons and glia, and birth defects arise when the cartilage/neuronal/glial progenitors fail to differentiate. PRDM16 is a transcriptional regulator containing both zinc‐finger and SET domains, implicated in craniofacial development and orofacial
Fahmida Raha, Qiman Gao, Lomeli C. Shull, Kristin B. Artinger   +3 more
wiley   +1 more source

Displasia septo-óptica: um relato de caso sobre síndrome de Morsier [PDF]

Residência Pediátrica
INTRODUCTION: Septo-optic dysplasia, also known as Morsier Syndrome, is considered a rare congenital disease, with an estimated incidence of 1 in every 100,000 live births and is characterized by the triad: midline defects (corpus callosum agenesis and ...
Marina Bonagurio Julio, Brenna Marques Amorim Tenorio, Helen Vinco Secchin, Juliana Brizzante Ferreira, Marina Dall'Ara de Souza   +4 more
doaj   +1 more source

Evidence for functional convergence between LZTS2 and DYRK1A during craniofacial development

Developmental Dynamics, EarlyView.
Abstract Background Precise control of DYRK1A dosage is essential for embryonic development, including craniofacial morphogenesis. While LZTS2 is among the most consistently identified DYRK1A‐interacting proteins, its roles in embryonic development remain incompletely understood, and its potential contribution to craniofacial development has not been ...
Nicole Cheng, Santiago Lima, Larisa Litovchick, Amanda J. G. Dickinson   +3 more
wiley   +1 more source

Septo-optic dysplasia Displasia septo-óptica

Arquivos de Neuro-Psiquiatria, 2010
Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction.
Karina de Ferran, Isla Aguiar Paiva, Daniel Luiz Schueftan Gilban, Monique Resende, Micheline Abreu Rayol de Souza, Izabel Calland Ricarte Beserra, Marilia Martins Guimarães   +6 more
doaj   +1 more source

Artificial Intelligence for Distinguishing Glaucoma From Its Mimickers: A Narrative Review of Diagnostic Pitfalls, Validation Gaps, and Clinical Translation

Eye &ENT Research, EarlyView.
ABSTRACT Artificial intelligence (AI) has advanced rapidly in glaucoma, but many models remain optimized for case‐control detection rather than the clinically harder task of distinguishing glaucoma from its mimickers. This narrative review primarily examined literature published from January 2018 to March 2026 on glaucoma AI, difficult comparator ...
Cansu Yüksel Elgin
wiley   +1 more source

Partially Empty Sella with Optic Disc Coloboma - Unique Association

Journal of Medical Sciences and Health
Congenital anomalies in individuals, more often than not involve multiple organs. We present the case of a 26-year-old female who presented with headache and sleep disturbances as primary complaints. She was found to have a partially empty sella
Saswati Sen, Snehalata Dash, Akash Sidana, Anjali Goel   +3 more
doaj   +1 more source

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies

Pediatric Reports, 2011
The clinical phenotype of congenital pituitary hormone deficiency is variable and can be associated with a number of structural abnormalities of the central nervous system.
Kuniko Takanashi, Yashuto Suzuki, Ayumu Noro, MInako Sugiyama, Masanori Nakanishi, Tetsuro Nagashima, Akie Nakamura, Ishizu Katsura, Toshihiro Tajima   +8 more
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source