Results 41 to 50 of about 5,544 (177)

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

Congenital aniridia patients experience on their visual impairment in Hungary An ANIRIDIA-NET survey

, 2023
Introduction: Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impair-ment. Objective: To assess the experiences of congenital aniridia patients in Hungary, with visual impairment using a ques-tionnaire ...
Kitti, Kormanyos, Annamaria, Naray,, Orsolya, Nemeth,, Annamaria, Naray, Erika, Maka,, Dietmar, Hecker, Christina, Grupcheva, Erika, Maka, Kitti, Kormanyos,, Kalman, Tory,, Nora, Szentmary, Lagali, Neil, Tanja, Stachon, Maria, Csidey,, Dorottya, Szabo,, Zsolt, Nagy Zoltan, Krisztina, Knezy,, Klaudia, Keki-Kovacs,, Zsolt, Nagy Zoltan,, Maria, Csidey, Andrea, Szigeti, Anita, Csorba,, Andrea, Szigeti,, Marta, Corton,, Nora, Szentmary,, Klaudia, Keki-Kovacs, Orsolya, Nemeth, Tanja, Stachon,, Marta, Corton, Kalman, Tory, Krisztina, Knezy, Maria, Bausz, Dietmar, Hecker,, Anita, Csorba, Christina, Grupcheva,, Lagali, Neil,, Dorottya, Szabo, Maria, Bausz,   +37 more
core   +1 more source

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

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]

International Journal of Ophthalmology
AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen   +6 more
doaj   +1 more source

Congenital Aniridia: Exploring Visual Disabling Manifestations in the Ocular Surface and Ocular Fundus through Clinical and Translational Approaches

, 2020
Congenital aniridia is primarily characterized by hypoplasia of the iris and the retinal fovea. Foveal hypoplasia is the main cause of congenital reduced vision. Keratopathy is common in aniridia, leading to considerable visual impairment.
Landsend, Erlend Christoffer Sommer
core   +1 more source

Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities

BMC Ophthalmology, 2022
Background Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have ...
Junyi Ouyang, Ziyan Cai, Yinjie Guo, Fen Nie, Mengdan Cao, Xuanchu Duan   +5 more
doaj   +1 more source

New horizons in aniridia management: Clinical insights and therapeutic advances

Taiwan Journal of Ophthalmology, 2023
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia.
Abha Gour, Shailaja Tibrewal, Aastha Garg, Mehak Vohra, Ria Ratna, Virender Singh Sangwan   +5 more
doaj   +1 more source

Diadenosine polyphosphates in the tears of aniridia patients

, 2015
En abierto en la web del editor (septiembre 2016)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 ...
Carracedo Rodríguez, Juan Gonzalo, Peral Cerda, María Asunción, Pintor Just, Jesús Jerónimo   +2 more
core   +1 more source

Artificial iris implantation in congenital aniridia: A systematic review

, 2023
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular morbidities such as cataract, keratopathy, optic nerve and foveal hypoplasia, and ...
Romano, Davide, Neil Lagali, Mauring, Laura, Rahman, Amna, Semeraro, Francesco, Romano, Vito, Amna Rahman, Laura Mauring, Barbany, Miriam, Miriam Barbany, Lagali, Neil, Bremond-Gignac, Dominique, Vito Romano, Davide Romano, Dominique Bremond-Gignac, Claus Cursiefen, Cursiefen, Claus, Francesco Semeraro   +17 more
core   +1 more source

Congenital Aniridia with Ectopia Lentis

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2016
A 13-year-old male presented with complaints of gradual diminution of vision and photophobia in both eyes since early childhood. He had history of recurrent falls and difficulty in reading. Family history was noncontributory. Best corrected visual acuity at the time of presentation was 6/60 in both eyes.
Rakhi Kusumesh, Anita Ambastha
openaire   +3 more sources