Results 41 to 50 of about 22,493 (269)
Hypermetropia, myelinated retinal nerve fiber and amblyopia: Reverse straatsma syndrome
TNOA Journal of Ophthalmic Science and Research, 2022 Myelinated retinal nerve fibers (MRNF) are a common developmental anomaly. MRNF is commonly associated with myopia. The association of MRNF with myopia, amblyopia, and strabismus is well documented. The amblyopia may be refractory to treatment. We report
Saranya Settu, Muthumeena Muthumalai
doaj +1 more source
Refractive error study in young subjects: results from a rural area in Paraguay [PDF]
, 2017 AIM: To evaluate the distribution of refractive error in young subjects in a rural area of Paraguay in the context of an international cooperation campaign for the prevention of blindness.
Estrella Lumeras, Miguel Ángel +4 more
core +5 more sources
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source
Macular thickness in patients with refractive errors
Российский офтальмологический журнал, 2023 Purpose. To investigate the influence of the axial length of eyes on the average macular thickness and to develop a method for assessing this optical coherence tomography (OCT) parameter in patients with refractive errors. Material and methods. The study
A. A. Shpak +2 more
doaj +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
Journal of Current Ophthalmology, 2018 Purpose: To determine the prevalence of hyperopia and myopia and their associations with age and gender in 5- to 15-year-old children in underserved rural areas in Iran. Methods: In this cross-sectional study, sampling was done using a multistage cluster
Hassan Hashemi +5 more
doaj +1 more source
Российский офтальмологический журнал, 2023 The improvement in nursing routine of premature babies with low and extremely low body weight has increased their survival rate. Along with the growing number of such children, retinopathy of prematurity (ROP) occurs relatively less often and its outcome
A. V. Myagkov, P. V. Rozental
doaj +1 more source
The Association of Central corneal thickness with Intra-ocular Pressure and Refractive Error in a Nigerian Population [PDF]
, 2008 The purpose of this study was to determine the variation of central corneal thickness (CCT) with intraocular pressure (IOP) and spherical equivalent refractive error.
Iyamu, Eghosasere, Memeh, Misan
core +1 more source
Age-related changes in the human visual system and prevalence of refractive conditions in patients attending an eye clinic [PDF]
, 2008 PURPOSE: To retrospectively report the trends of change in several parameters of the human visualsystem over a wide age range in patients attending an eye clinic. SETTING: University of Valencia, Valencia, Spain.
Ferrer-Blasco, Teresa +2 more
core +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