Results 31 to 40 of about 10,524 (180)

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

Bilateral Macular Coloboma: A Rare Entity

Delhi Journal of Ophthalmology, 2022
A macular coloboma is rare, congenital entity characterized by round or oval area of chorioretinal atrophy of variable size at the macula. A 20-year-old male visited to out patient department with a complain of poor vision in both eyes. Patient underwent
Rajlaxmi Virkar, Amit S. Nene, Onkar H. Pirdankar, Madhuri Meshram, Pushpanjali Badole, Smitesh Shah   +5 more
doaj   +1 more source

Equine eyelid reconstruction by semi‐circular skin flap blepharoplasty

Equine Veterinary Education, EarlyView.
Summary Reconstructive surgeries of the equine eyelid carry significant challenges for the equine surgeon, due to the poorly mobile and tightly adhered facial skin in this species. Preservation of lid function is an essential surgical consideration in order to maintain protection of the globe and cornea and to provide ocular comfort to the case ...
V. J. Jordan, D. Leong, C. Hartley
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

A rare case of bilateral choroidal coloboma within deep posterior staphyloma associated with macular hole retinal detachment

Indian Journal of Ophthalmology, 2019
To report case of bilaterally symmetrical choroidal coloboma within posterior staphyloma with MHRD. This is a case report of a 50year old female presented with diminished vision in both eyes.
Kadri Venkatesh, Neha Khanna, S Sivaranjani, Sri Ganesh   +3 more
doaj   +1 more source

TGFβ-facilitated optic fissure fusion and the role of bone morphogenetic protein antagonism [PDF]

Open Biology, 2018
The optic fissure is a transient gap in the developing vertebrate eye, which must be closed as development proceeds. A persisting optic fissure, coloboma, is a major cause for blindness in children.
Max D. Knickmeyer, Juan L. Mateo, Priska Eckert, Eleni Roussa, Belal Rahhal, Aimee Zuniga, Kerstin Krieglstein, Joachim Wittbrodt, Stephan Heermann   +8 more
doaj   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +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

Cutis Tricolor‐Like Pigmentary Mosaicism in Mowat–Wilson Syndrome: Phenotypic Overlap With Ruggieri–Happle Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri–Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects.
Didier Bessis, Pierre Meyer, Marjolaine Willems   +2 more
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