Results 21 to 30 of about 168,602 (136)
A Typical Lens Coloboma – A Rare Cause of Childhood Blindness
Delhi Journal of Ophthalmology, 2011 A lens coloboma is a rare congenital anomaly characetrised by its nothching at the eguator occurring generally at the site of embryonic fissure i.e. inferonasally. Superior Lens Coloboma is rare ocular finding.
Punita Garg, Parul Aggarwal, H.K Sidhu
doaj +1 more source
BMC Ophthalmology, 2020 Background Pseudoduplication of the optic disc is a rare clinical condition that is characterized by a circumscribed, disc-like lesion with radiating vessels but only one normal optic nerve.
Liuhui Huang +3 more
doaj +1 more source
, 2015 Purpose: To report a case of canine atypical chorioretinal coloboma where ophthalmoscopic, fluoroangiographic and optical coherence tomography characteristics are described.
Rodríguez Álvaro, Alfonso +2 more
core +1 more source
BMC Medical Genetics, 2019 Background We performed clinical and genetic characterization of a family with cavitary optic disc anomaly (CODA), an autosomal dominant condition that causes vision loss due to adult-onset maculopathy in the majority of cases. CODA is characterized by a
Eileen S. Hwang +6 more
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Absence seizures: Update on signaling mechanisms and networks
Epilepsia Open, EarlyView.Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source
Iris coloboma, apresentação do caso [PDF]
, 2020 Introduction: the coloboma is a birth defect of the lower sector of the iris or a neckline in the pupil margin that gives the pupil a locking appearance.Case presentation: The case of a 53-year-old male patient with clinical diagnosis of iris coloboma in
Gutiérrez Núñez, Rafael +3 more
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CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron +5 more
wiley +1 more source
Systemic and Ophthalmologic Findings in Patients with Iris Coloboma
, 2013 Pur po se: Ocular coloboma is a rare malformation resulting from defective closure of the embryonic optic fissure. It can affect iris, retina, choroid, optic disc or ciliary body. This study reviews the clinical diagnosis and the accompanying ocular and
Nurgül Kuş +3 more
core +1 more source
A Rare Duo: Bilateral Macular Coloboma with One Dragged Disc
Delhi Journal of OphthalmologyMacular colobomas are atypical and rare variants of congenital ocular anomalies; further, dragging of the optic disc is extremely rare. Here, presenting a case report on the rare duo of bilateral macular coloboma with unilateral right-sided dragged optic
Anju Bhaskar +2 more
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Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum
Clinical Genetics, EarlyView.Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz +23 more
wiley +1 more source