Results 31 to 40 of about 356,068 (177)

Congenital glaucoma accompanied by natal teeth: A case report

Van Tıp Dergisi, 2017
Primary congenital glaucoma is a global problem, which is characterized by increased intraocular pressure and resulted in loss of vision if not timely and appropriately treated.
Yusuf Kale, Ümit Aksoy
doaj   +1 more source

Familial congenital glaucoma and epilepsy: a case series. [PDF]

, 2012
We present two siblings from consanguineous marriage, both with congenital glaucoma and seizure disorders with progressive visual impairment and blindness.
Ibrahim, UF, Alhaji, MA, Ahmad, H, Ashir, GM   +3 more
core   +1 more source

Pediatric glaucoma in a university hospital [PDF]

, 2021
Aims and objectives: This study aimed at describing the characteristics and outcomes of pediatric glaucoma patients in a university hospital in Lebanon and comparing them between primary congenital glaucoma (PCG) and secondary glaucoma.
Khair, Diana, Al-Haddad, Christiane Elias, Dakroub, Mohamad, Noureddine, Bahaa’ N., Mohamad Dakroub, Christiane Al-Haddad, Diana Khair, Bahaa\' Noureddine   +7 more
core   +1 more source

Number of glaucoma medication after probe TO, 360° TO, cyclodestructive procedure in glaucoma after congenital cataract surgery.

, 2023
Number of glaucoma medication after probe TO, 360° TO, cyclodestructive procedure in glaucoma after congenital cataract surgery.
Norbert Pfeiffer (26543), Alexander K. Schuster (9302074), Julia V. Stingl (16496484), Esther M. Hoffmann (16496487), Alicja Strzalkowska (16496478), Piotr Strzalkowski (16496481)   +5 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Pattern of congenital ocular anomailes among children seen at a West African tertiary eye care centre: A retrospective study

Journal of Clinical Sciences, 2021
Background: The purpose of the study was to describe the pattern of presentation of congenital ocular anomalies (COAs) among children seen at the, Department of Ophthalmology (Guinness Eye Centre), Lagos University Teaching Hospital, Lagos, Nigeria ...
Kareem Olatunbosun Musa, Sefinat Abiola Agboola, Olapeju Ajoke Sam-Oyerinde, Salimot Tolani Salako, Chinwendu Nwanyieze Kuku, Chinyei Joan Uzoma   +5 more
doaj   +1 more source

CYP1B1 Gene Analysis in Primary Congenital Glaucoma Brazilian Patients Novel Mutations and Association With Poor Prognosis

, 2010
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Purpose: To determine the spectrum of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma, and to correlate the presence of alterations in the CYP1B1 gene sequence with
Umbelino, CC, Richeti, F, Costa, VP, de Vasconcellos, JPC, de Melo, MB, Kasahara, N, Della Paolera, M, Rocha, MN, Tavares, A, Vital Paulino Costa, José Paulo Cabral de Vasconcellos, Flávio Richeti, Mylene Neves Rocha, Niro Kasahara, Anderson Tavares, Maurício Della Paolera, Mônica Barbosa de Melo, Cristiano Caixeta Umbelino   +17 more
core   +1 more source

Can automated imaging for optic disc and retinal nerve fiber layer analysis aid glaucoma detection? [PDF]

, 2016
Open Access funded by Department of Health UKPurpose: To compare the diagnostic performance of automated imaging for glaucoma. Design: Prospective, direct comparison study.
Jonathan Cook (3435386), Rupert R. A. Bourne (3232398), Cook, Jonathan, Charles Boachie (725223), Garway-Heath, David, Joanne Gray (468122), Pete McMeekin (16670856), Hernández, Rodolfo, Gray, Joanne, McMeekin, Peter, Jennifer M. Burr (16657107), Ramsay, Craig, Burr, Jennifer, Katie Banister (8982902), Craig R. Ramsay (9096188), David F. Garway-Heath (8770919), Boachie, Charles, Bourne, Rupert, Burr, Jennifer M., Banister, Katie, Azuara-Blanco, Augusto, Augusto Azuara-Blanco (6328919), Rodolfo Hernández (16670859), Burr, Jennifer M.; id_orcid   +23 more
core   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Therapeutic effect analysis on the treatment of congenital glaucoma through modified combined trabeculotomy-trabeculectomy [PDF]

International Journal of Ophthalmology, 2016
AIM: To evaluate the therapeutic effect and the safety of the treatment of congenital glaucoma through modified combined trabeculotomy-trabeculectomy.
Zhen-Kai Wu, Jing Wu, Qian Tan, Jian Jiang, Wei-Tao Song, Xiao-Bo Xia   +5 more
doaj   +1 more source