Results 71 to 80 of about 8,209 (195)

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Journal of Ophthalmology, 2018
Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve ...
Grace M. Wang, Lev Prasov, Hayder Al-Hasani, Colin E. R. Marrs, Sahil Tolia, Laurel Wiinikka-Buesser, Julia E. Richards, Brenda L. Bohnsack   +7 more
doaj   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Managing elevated intraocular pressure in a patient with optic nerve hypoplasia

Clinical Optometry, 2009
Karina Marcovitch, Joseph SowkaNova Southeastern University, College of Optometry, Davie, FL, USABackground: Optic nerve hypoplasia (ONH) is a congenital optic disc anomaly, often manifesting with visual deficits.Case: A 51-year-old woman with a history ...
Karina Marcovitch, Joseph Sowka
doaj  

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives

Eye and Brain, 2019
Mario Ganau,1 Sibel Huet,1 Nikolaos Syrmos,2 Marco Meloni,3 Jayaratnam Jayamohan1 1Department of Neurosurgery, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2Department of Neurosurgery, School of Medicine, Aristotle University of ...
Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J   +4 more
doaj  

Surface‐Specific and Time‐Dependent Stain Removal Around Orthodontic Brackets: An In Vitro Comparison of Manual Toothbrush Designs

International Journal of Dental Hygiene, EarlyView.
ABSTRACT Objective This study evaluated the efficacy of different manual toothbrush designs in removing extrinsic stains around orthodontic brackets using surface‐specific and time‐dependent assessments. Methods Fifty extracted premolars bonded with brackets and archwires were stained and randomly allocated to five toothbrush groups: conventional (CTB),
Shea Lee Lim, Khairil Aznan Mohamed Khan, Hsu Zenn Yew, Murshida Marizan Nor   +3 more
wiley   +1 more source

Pericerebral spaces as diagnostic signposts in fetal central nervous system pathologies

Ultrasound in Obstetrics &Gynecology, EarlyView.
L. Guibaud, S. Cabet
wiley   +1 more source

Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard, Segolène Falquero, Sophie Denamur, Pierre‐Yves Boelle, Karl Leroux, Harriet Corvol, Aimé Ravel, Clotilde Mircher, Jeanne Toulas, Emmanuelle Prioux, Marie‐Anne Caillaud, Guillaume Aubertin, Hervé Walti   +12 more
wiley   +1 more source

Ectopia lentis et pupillae

Indian Journal of Ophthalmology, 1989
A rare case of congenital bilateral ectopia lentis et pupillae (ELEP) is reported in a 32 year old female presenting with complaints of diminution of vision in both eyes.
Gupta Naresh, Ayra Adarsh, Azad Rajvardhan   +2 more
doaj  

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