Results 61 to 70 of about 75,672 (332)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Pattern Strabismus: Where Does the Brain's Role End and the Muscle's Begin?

Journal of Ophthalmology, 2013
Vertically incomitant pattern strabismus comprises 50% of infantile horizontal strabismus. The oblique muscle dysfunction has been associated with pattern strabismus.
Fatema F. Ghasia, Aasef G. Shaikh
doaj   +1 more source

Orbital causes of incomitant strabismus [PDF]

, 2015
Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
core   +3 more sources

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Evaluation of Corneal Endothelium in Adolescents with Juvenile Glaucoma

Journal of Ophthalmology, 2015
Purpose. To evaluate the endothelial cell density (ECD) and central corneal thickness (CCT) in adolescents with juvenile open-angle glaucoma (JOAG) and ocular hypertension (OH) and to investigate the influence of topical antiglaucoma medications on ECD ...
Beata Urban, Alina Bakunowicz-Łazarczyk, Marta Michalczuk, Małgorzata Krętowska   +3 more
doaj   +1 more source

Ocular manifestations in Gorlin-Goltz syndrome [PDF]

, 2019
Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F., Giustini, S., Himmelblau, E., Iacovino, C., Lambiase, A., Mallone, F., Miraglia, E., Moramarco, A., Roberti, V.   +8 more
core   +1 more source

Mismatching Expressions: Spatiotemporal and Kinematic Differences in Autistic and Non‐Autistic Facial Expressions

Autism Research, EarlyView.
ABSTRACT Preliminary studies suggest there are differences in the facial expressions produced by autistic and non‐autistic individuals. However, it is unclear what specifically is different, whether such differences remain after controlling for facial morphology and alexithymia, and whether production differences relate to perception differences ...
Connor T. Keating, Sophie Sowden‐Carvalho, Holly O′Donoghue, Jennifer L. Cook   +3 more
wiley   +1 more source

Combined Papillectomy and Autologous Conjunctival Membrane Graft as Management of Giant Papillae for Severe, Refractory Palpebral Vernal Keratoconjunctivitis—A Case Report

Case Reports in Ophthalmological Medicine
Conclusion: The management of VKC necessitates a comprehensive approach involving preventive measures, pharmacological treatment, and surgical interventions for refractory cases. This case highlights the potential benefits of surgical techniques, such as
Devina Nur Annisa, Hernawita Suharko, Hasiana Lumban Gaol, Viona Viona   +3 more
doaj   +1 more source

Characteristics of Anisometropic Patients with and without Strabismus

Türk Oftalmoloji Dergisi, 2018
Objectives: To evaluate the risk factors for strabismus in patients with anisometropia by comparing degree of anisometropia, depth of amblyopia, and binocular visual function in anisometropic patients with and without strabismus.
Reşat Duman, Huban Atilla, Emine Çatak
doaj   +1 more source

New advances in amblyopia therapy I: Binocular therapies and pharmacologic augmentation [PDF]

, 2018
Amblyopia therapy options have traditionally been limited to penalisation of the non-amblyopic eye with either patching or pharmaceutical penalisation. Solid evidence, mostly from the Pediatric Eye Disease Investigator Group, has validated both number of
Culican, Susan M, Kraus, Courtney L
core   +2 more sources