Results 101 to 110 of about 309,795 (229)

Removal of dense posterior capsule opacification after congenital cataract extraction using the transconjunctival sutureless vitrectomy system

, 2004
We report a case of posterior capsule opacity and anterior hyaloid opacity after congenital cataract extraction that was successfully and easily removed using the transconjunctival sutureless vitrectomy system (TSV 25, Bausch & Lomb Surgical).
김성수, 성공제, 이성철, 권오웅, 이형근, 김응권, 김찬윤   +6 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, Volume 200, Issue 10, Page 2396-2404, October 2026.
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

Granulomatous uveitis and congenital cataract: a rare association

, 2010
The association of a granulomatous uveitis and congenital cataract and is rarely observed in newborn children. We describe the history of two patients presenting simultaneously with these two features in the absence of a TORCH ...
Basso, A., Basso, A, Guex-Crosier, Y., Frueh, B E, Frueh, B.E., Guex-Crosier, Y, Mansouri, K., Mansouri, K   +7 more
core   +1 more source

Characteristic cytokine profile of the aqueous humor in eyes with congenital cataract and pre-existing posterior capsule dysfunction

Frontiers in Medicine
ObjectivesTo investigate the characteristic cytokine profile of the aqueous humor in eyes with congenital cataract and pre-existing posterior capsule dysfunction (PCD).MethodsIn this cross-sectional study, the enrolled eyes with congenital cataract and ...
Yinying Zhao, Yinying Zhao, Qihui Zhao, Qihui Zhao, Hongfang Zhang, Hongfang Zhang, Zhewen Zhang, Zhewen Zhang, Dandan Wang, Dandan Wang, Zhangliang Li, Zhangliang Li, Xixia Ding, Xixia Ding, Yune Zhao, Yune Zhao   +15 more
doaj   +1 more source

Surgical management of bilateral congenital coloboma of the iris and congenital cataract

Journal of Ophthalmology, 2018
Background. A combined character of a defect, which is congenital coloboma in the presence of congenital cataract, brings up an issue of choosing optimal management to achieve the maximum possible optical functions, provided that the risk of development ...
N.F. Bobrova, D.V. Smaglii
doaj   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
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

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +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, Volume 200, Issue 9, Page 1989-1999, September 2026.
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

Meeting the needs of children with congenital and developmental cataract in Africa

, 2008
In much of Africa, childhood cataract is becoming one of the leading causes of new cases of blindness reported per year.Although there is insufficient data on childhood cataract, both congenital and developmental, the backlog of children in need of ...
Childhood Cataract Experts Meeting Group, Paul Courtright   +1 more
core  

Surgical management of congenital cataract: the challenges [PDF]

, 2013
Purpose: The surgical approach to congenital cataract in infants has been improved for the last decades although children may still develop deprivation amblyopia, strabismus, nystagmus and glaucoma.
Feijóo, B, Pêgo, P, Pina, S, Vendrell, C, Prieto, I, Pedrosa, C   +5 more
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