Results 61 to 70 of about 298,883 (362)

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

American Journal of Medical Genetics Part A, EarlyView.
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

Visual impairment among weaving communities in Prakasam district in South India. [PDF]

, 2013
PURPOSE: To assess the prevalence and causes of visual impairment in weaving communities in Prakasam district in South India state of Andhra Pradesh.
Saggam Narsaiah, Konegari Shekhar, Marmamula, Srinivas, Rohit C Khanna, Narsaiah, Saggam, Shekhar, Konegari, Khanna, Rohit C, Srinivas Marmamula   +7 more
core   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Cellular therapy of the corneal stroma: a new type of corneal surgery for keratoconus and corneal dystrophies

Eye and Vision, 2018
Cellular therapy of the corneal stroma, with either ocular or extraocular stem cells, has been gaining a lot of interest over the last decade. Multiple publications from different research groups are showing its potential benefits in relation to its ...
Jorge L. Alió del Barrio, Jorge L. Alió   +1 more
doaj   +1 more source

Risk Factors and Incidence of Macular Edema after Cataract Surgery: A Database Study of 81984 Eyes.

Ophthalmology (Rochester, Minn.), 2016
PURPOSE To define the incidence of pseudophakic macular edema (PME) after cataract surgery and to identify contributory risk factors. DESIGN Retrospective database study of electronic medical records (EMRs).
Colin J. Chu, R. Johnston, Charlotte P Buscombe, A. Sallam, Q. Mohamed, Y. C. Yang   +5 more
semanticscholar   +1 more source

Eye conditions and blindness in children: priorities for research, programs, and policy with a focus on childhood cataract. [PDF]

, 2012
The major causes of blindness in children encompass intrauterine and acquired infectious diseases, teratogens and developmental and molecular genetics, nutritional factors, the consequences of preterm birth, and tumors.
Mohammed Muhit, Gilbert, Clare, Muhit, Mohammed, Clare Gilbert   +3 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Comparisons of biometric parameters measurements by OPD-SCAN Ⅲ and Pentacam in cataract

Photodiagnosis and Photodynamic Therapy
Background: Comparison of OPD-Scan III and Pentacam measurements of relevant parameters guiding the selection of multifocal intraocular lenses in cataract patients. Methods: A retrospective study included 120 patients (120 eyes) with cataract.
Shiqi Dong, Rong Xu, Yue Wang, Wei Xiao, Ya Jiao   +4 more
doaj   +1 more source

COVID-19 Disease and Ophthalmology: An Update

Ophthalmology and Therapy, 2020
The worldwide outbreak of the severe and acute respiratory coronavirus disease (COVID-19) caused by the coronavirus strain SARS-CoV-2 is currently the focal point of discussion due to the suffering this syndrome is causing to humanity.
María A. Amesty, Jorge L. Alió del Barrio, Jorge L. Alió   +2 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source