Results 51 to 60 of about 25,565 (228)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

TOBACCO AMBLYOPIA. [PDF]

The Lancet, 1888
n ...
openaire   +2 more sources

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Amblyopia Last Status [PDF]

, 2017
Ambliyopi, organik bir göz patolojisi olmamasına rağmen görme keskinliğinde tek veya çift taraflı azalma olmasıdır. Çocuklar ve genç erişkinlerde tek taraflı görme azlığının en sık sebepi ambliyopi olup genel toplumda görülme sıklığı %1-5 arasında ...
Status, Amblyopia Last, Durum, Ambliyopide Son   +1 more
core  

Prevalence and characteristics of amblyopia, strabismus, and refractive errors among patients aged 3–16 years in Shanghai, China: a hospital-based population study

BMC Ophthalmology
Background Functional visual impairments in children are primarily caused by amblyopia or strabismus. This study aimed to determine the prevalence and clinical profile of amblyopia and strabismus among individuals aged 3–16 years in Shanghai, China ...
Jiali Wu, Ning Wang
doaj   +1 more source

Prevalence of amblyopia among adult population and their various impacts on life: An experience over a period of eight months

Kerala Journal of Ophthalmology
Background: Amblyopia is due to insufficient development of the visual system in early childhood and affects 1% and 2% population of most developed countries. Aims and Objective: (1) Prevalence of amblyopia among adult population attending our hospital. (
Sujit Das, Sukhdayal S. Shergill
doaj   +1 more source

Certain aspects of amblyopia treatment in children

Российский офтальмологический журнал, 2018
Purpose: to identify treatment efficiency factors in various forms of amblyopia. Material and methods. Histories of 31945 amblyopic children aged 17 or under over a 5-year period were analyzed retrospectively.
A. D. Chuprov, E. L. Borshchuk, A. E. Voronina   +2 more
doaj   +1 more source

Barriers to Ophthalmologic Care Reported by Family Caregivers of Users and Non‐Users With Intellectual Disabilities

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 845-857, August 2026.
ABSTRACT Background People with intellectual disabilities (IDs) are more likely to experience vision‐related impairments, yet they face many barriers to accessing eye care. Although previous studies have described these barriers, few have compared barriers reported by families who have and have not accessed ophthalmologic care, which may provide ...
Chiun‐Ho Hou, Yueh‐Ching Chou, Shu‐Fang Shih, Christy Pu   +3 more
wiley   +1 more source

Pharmacological enhancement of treatment for amblyopia [PDF]

, 2012
Mohammad A RashadOphthalmology Department, Faculty of Medicine, Ain Shams University, Cairo, EgyptBackground: The purpose of this study was to compare a weight-adjusted dose of carbidopa-levodopa as treatment adjunctive to occlusion therapy with ...
Rashad MA
core  

Effect of amblyopia treatment on macular microvasculature in children with anisometropic amblyopia using optical coherence tomographic angiography

Scientific Reports, 2021
To measure the retinal microvascular density in patients with anisometropic amblyopia using optical coherence tomographic angiography (OCTA) and to evaluate the effects of successful amblyopia treatment on microvasculature in retina.
Tengyue Zhang, Shiyong Xie, Yangchen Liu, Caihong Xue, Wei Zhang   +4 more
doaj   +1 more source