Results 31 to 40 of about 10,294 (182)

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

The pull of the macula: Optic disc dragging in large macular coloboma

Oman Journal of Ophthalmology
Macular coloboma is an excavation at the macula with defective or rudimentary retinal tissue. Here, we present an unusual case of large bilateral macular coloboma with dragging of optic disc.
Sahana S. Karanth, Akansha Shetty, K. Vaishna   +2 more
doaj   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations

Scientific Reports, 2017
Ocular coloboma is a common eye malformation arising from incomplete closure of the human optic fissure during development. Multiple genetic mutations contribute to the disease process, showing extensive genetic heterogeneity and complexity of coloboma ...
Xiu-Feng Huang, Zhi-Qin Huang, Dan Lin, Ma-Li Dai, Qing-Feng Wang, Zhen-Ji Chen, Zi-Bing Jin, Yuqin Wang   +7 more
doaj   +1 more source

frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma

Disease Models & Mechanisms
Clinton Monfries, Stephen Carter, Paris Ataliotis, Aya Bseisu, Mahum Shaikh, Maria Hernández-Bejarano, Mohammed Fourteia, Mara Ioana Maftei, Rodrigo M. Young, Stephen W. Wilson, Gaia Gestri, Florencia Cavodeassi   +11 more
doaj   +2 more sources

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, EarlyView.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source

The α2C-adrenergic receptor mediates hyperactivity of coloboma mice, a model of attention deficit hyperactivity disorder

Neurobiology of Disease, 2006
Drugs that modify noradrenergic transmission such as atomoxetine and clonidine are increasingly prescribed for the treatment of attention deficit hyperactivity disorder (ADHD).
Kristy J. Bruno, Ellen J. Hess
doaj   +1 more source

Transscleral filtration revealing a chorioretinal coloboma

American Journal of Ophthalmology Case Reports, 2021
Purpose: We report the case of a 19-year-old patient who presented with an ocular hypotony due to a transscleral filtration through an isolated congenital chorioretinal coloboma in his right eye.
Benjamin Scemla, Quentin Duroi, Pierre Duraffour, Vaël Souedan, Antoine P. Brézin   +4 more
doaj   +1 more source

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source

Repair of Iris Defects

Delhi Journal of Ophthalmology, 2014
Purpose: To demonstrate three techniques of repair of iris defects in cases with iridodialysis, post surgical coloboma and post-traumatic mydriasis. Methods: Video-based description of repair of three cases of iris defects, highlighting the technique and
Tushar Agarwal, Tarun Arora
doaj   +1 more source