Results 31 to 40 of about 7,292 (198)

Diadenosine polyphosphates in the tears of aniridia patients [PDF]

, 2015
Purpose To quantify diadenosine polyphosphate levels in tears of congenital aniridia patients to estimate the ocular surface changes associated with congenital aniridia compared to normal individuals. Methods Fifteen patients diagnosed with congenital
Carracedo Rodríguez, Juan Gonzalo, Peral Cerdá, Assumpta, Pintor, Jesús   +2 more
core   +1 more source

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source

Congenital aniridia and strabismus

Acta Ophthalmologica, 2022
AbstractPurposeCongenital aniridia is a panocular disease with congenital absence of iris. Congenital Aniridia affects, beyond iris, cornea, angle structures, lens and fovea, and possibly associated with other anomalies. This genetic rare disease can cause severe visual impairment occurring from various mechanisms as glaucoma, limbal insufficiency and ...
Lucie Sordello, Ines Belilita, Dominique Bremond‐Gignac   +2 more
openaire   +1 more source

Use of the XEN gel implant in a patient with aniridia-associated glaucoma

American Journal of Ophthalmology Case Reports, 2021
Purpose: To report on the implantation of a XEN 45 gel implant in a patient with glaucoma associated with congenital aniridia. Observations: A 60-year old man with familial congenital aniridia and glaucoma presented with intraocular pressure of 30 mmHg ...
Are Lindland, John-Thomas Edward Michelet, Jon Erik Slagsvold   +2 more
doaj   +1 more source

Iris prosthesis in traumatic aniridia as an attempt to control refractory glaucoma induced by silicone oil in the anterior chamber: case report [PDF]

, 2005
The objective of this report is to demonstrate the effectiveness of an iris prosthesis to treat a refractory glaucoma induced by silicone oil in the anterior chamber. This case is about a patient who suffered a trauma caused by firearm shrapnel.
Abib, Fernando César, Luchini, Andréa, Torres, Reginaldo Antônio De Almeida, Torres, Rogil José De Almeida, Torres, Rogério João De Almeida   +4 more
core   +3 more sources

Docosahexaenoic acid promotes photoreceptor differentiation without altering Crx expression [PDF]

, 2006
PURPOSE: The precise molecular cues required for photoreceptor development are still unknown. Pax6 and Crx are essential during early retinal development and for photoreceptor differentiation, respectively.
Garelli, Andres, Politi, Luis Enrique, Rotstein, Nora Patricia   +2 more
core   +2 more sources

Tear fluid biomarkers in ocular and systemic disease: potential use for predictive, preventive and personalised medicine [PDF]

, 2016
In the field of predictive, preventive and personalised medicine, researchers are keen to identify novel and reliable ways to predict and diagnose disease, as well as to monitor patient response to therapeutic agents.
A Acera, A Alonso, A Enríquez-de-Salamanca, A Enríquez-de-Salamanca, A Enríquez-de-Salamanca, A Ghaffariyeh, A Jemal, A Lambiase, A Lebrecht, A Lebrecht, A Leonardi, A Leonardi, A Leonardi, A Leonardi, A Leonardi, A Leonardi, A López-Miguel, A López-Miguel, A Peral, A Rentka, A Rentka, A Riemens, A Satici, A Solomon, AM Lemp, AP Smith, B Houser, B Li, B Ujhelyi, Biomarkers Definitions Working Group, BL Kolozsvári, C Aass, C Costagliola, C Galbis-Estrada, C Galbis-Estrada, C Joffre, C Lebrun, C Salvisberg, C Symeonidis, C Tamer, CG Begley, CM Cheung, CM Tanner, CS Paiva De, D Böhm, D Devos, D Huang, D Karamichos, D Pieragostino, D Pieragostino, D Pieragostino, DK Sen, E Csősz, E Nivenius, E Papavasileiou, E Toker, E Uchio, EA Mahmoud, EB Cook, EB Cook, EM Messmer, FH Grus, G Danaei, G Geerling, G Grech, G Martino, GU Kallarackal, GW Ousler, H Lam, H Link, HG Boersma, HJ Kim, HR Taylor, HV Nema, IA Mackie, J Jin, J Shoji, J Shoji, J Soria, J Tauber, J You, J You, JB Roedl, JC Pong, JC Pong, JE Moore, JF Huang, JG Ladas, JM Holopainen, JM Holopainen, JW Jung, K Cai, KC Yoon, KC Yoon, KK Nichols, KR VanDerMeid, KS Na, KS Park, L Cocho, L Tong, L Tong, L Zhou, L Zhou, L Zhou, M Börger, M Calonge, M Mavra, M Mrugacz, M Mrugacz, M Mrugacz, M Sacchetti, M Schicht, M Tesón, M Tishler, M Zandbelt, MA Lemp, MA Mowafy, MB Abelson, MB Goren, ME Stern, MH Jagasia, ML Massingale, N Boehm, N Boehm, N Dong, N Matheis, N Thun Und Hohenstein-Blaul von, N Tomosugi, O Golubnitschaja, O Golubnitschaja, OD Schein, P Aragona, P Argüeso, P Chhadva, P Versura, PG Montan, PK Coyle, PK Coyle, PS Goedegebuure, Q Guo, R Ihnatko, R Sack, R Shetty, R Sorkhabi, R Tailor, S Chotikavanich, S Darougar, S D’Souza, S Gutman, S Hagan, S Hagan, S Rusnak, S Vujosevic, S Yavuz, SA Lim, SC Pflugfelder, SF Hamm-Alvarez, SG Wu, SM Lam, SM Lam, SS Çomoğlu, SV Aluru, SY Lee, T Göncü, T Matsumura, T Nguyen-Khuong, T Peto, T Sakimoto, T Skwor, TH Wakamatsu, V Evans, VA Smith, VV Kapetanakis, W Choi, W Choi, W Liu, X Tan, Y Ogawa, Y Ohashi, YC Tham, YS Rabinowitz, Z Lei, Z Torok, Z Torok   +183 more
core   +2 more sources

A novel variant in PAX6 as the cause of aniridia in a Chinese family

BMC Ophthalmology, 2021
Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.
X Jin, W Liu, LH Qv, WQ X, HB Huang
doaj   +1 more source

Excess caffeine exposure impairs eye development during chick embryogenesis [PDF]

, 2014
Caffeine has been an integral component of our diet and medicines for centuries. It is now known that over consumption of caffeine has detrimental effects on our health, and also disrupts normal foetal development in pregnant mothers.
Cheng, Xin, Chuai, Manli, Kurihara, Hiroshi, Lee, Kenneth Ka Ho, Ma, Zheng-Lai, Wang, Guang, Yang, Xuesong   +6 more
core   +3 more sources

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation [PDF]

, 2011
Background To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families.
Manèl Chograni, Myriam Chaabouni, Faouzi Mâazoul, Hedi Bouzid, Abdelhafid Kraiem, Habiba B Bouhamed Chaabouni   +5 more
core   +1 more source