Results 51 to 60 of about 64,340 (272)

Common visual problems in children with disability [PDF]

, 2014
Children with disability are at a substantially higher risk of visual impairment (VI) (10.5% compared with 0.16%) but also of ocular disorders of all types, including refractive errors and strabismus.
Salt, A, Sargent, J
core   +2 more sources

Prevalence of Strabismus among Patients Attending Basrah Teaching Hospital, Basrah, Iraq [PDF]

Al-Anbar Medical Journal
Background: Strabismus is a relatively widespread disorder. However, there is no local relevant study examined its prevalence.Objectives: To measure the prevalence and types of strabismus.Materials and methods: The study was a hospital-based cross ...
Mohammed Al Ashoor, Hamid Al Taha
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Development and application of the Chinese version of the adult strabismus quality of life questionnaire (AS-20): a cross-sectional study [PDF]

, 2013
Background Patients with strabismus experience visual dysfunction, self-image disorders, low self-esteem, and social and emotional barriers, which adversely influence their health-related quality of life (HRQoL).
Bian, Wei, Frey, Rosemary, Ren, Hui, Tang, Ling-Fei, Wang, Xian-Yuan, Wang, Zong-Hua   +5 more
core   +2 more sources

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Repeatability of the measurement of the horizontal phoria in near vision with cover test and modified thorington method [PDF]

, 2017
Objectiu- Estudiar la repetibilitat del cover test alternant i el mètode modificat de Thorington. Mètode- En aquest estudi han participat 10 persones joves i sanes amb agudesa visual de prop igual o superior a 20/20 amb la seva correcció habitual.
Gervilla Díaz, Gemma
core  

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

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

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

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