Results 31 to 40 of about 10,463 (202)
Restrictive extraocular myopathy: A presenting feature of acromegaly
Indian Journal of Ophthalmology, 2011 A 45-year-old man presented with binocular diplopia in primary gaze for 1 year. Orthoptic evaluation showed 10-prism diopter right eye hypotropia and 6-prism diopter right eye esotropia.
Steven Heireman +3 more
doaj +1 more source
Life, 2023 Background: The prevalence of refractive errors has sharply risen over recent decades. Despite the established role of genetics in the onset and progression of such conditions, the environment was also shown to play a pivotal role.
Michele Lanza +4 more
doaj +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
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 +6 more
wiley +1 more source
Journal of Rawalpindi Medical College, 2018 Background: Uncorrected refractory errors are one of the major causes of avoidable disabilities all over the world. Eye correction is a commonly used treatment technique for most of the refractive errors.
Ayla Amin +5 more
doaj
Significant Increase in Esodeviation Following Cycloplegia in Accommodative Esotropia
Delhi Journal of OphthalmologyCycloplegia is crucial for diagnosing and managing esotropia and hypermetropia. By relaxing accommodation, it allows for an accurate measurement of hypermetropia.
Santosh Chhetri +2 more
doaj +1 more source
Optimal dosage of cyclopentolate 1% for cycloplegic refraction in hypermetropes with brown irides
Indian Journal of Ophthalmology, 2011 To find the optimal dosage of cyclopentolate 1% for cycloplegic refraction in hypermetropes with brown irides, we investigated the difference in cycloplegic auto-refractions obtained after one, two, and three instillations in the same patient.
Kanwar Mohan, Ashok Sharma
doaj +1 more source
JEADV Clinical Practice, EarlyView.ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni +3 more
wiley +1 more source
The Power to Change: Conceptualising Systemic Change Towards Sustainability in Business Networks
Sustainable Development, EarlyView.ABSTRACT Sustainability advancement requires systemic changes in business networks of interconnected firms. Given the rapid need and complexity of instigating such transitions, the power to influence the networked actors emerges as a central concept.
Eini Haaja +4 more
wiley +1 more source