Results 41 to 50 of about 246,741 (174)

The Effect of Glaucoma Treatment on Aniridia-Associated Keratopathy (AAK) - A Report from the Homburg Register for Congenital Aniridia. [PDF]

Klin Monbl Augenheilkd
Congenital aniridia is a severe malformation of almost all eye segments. Aniridia-associated keratopathy (AAK) and secondary glaucoma, which occur in more than 50% of affected individuals, are typically progressive and pose a high risk of blindness for ...
Fries FN, Náray A, Munteanu C, Stachon T, Lagali N, Seitz B, Käsmann-Kellner B, Szentmáry N.   +7 more
europepmc   +2 more sources

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

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

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

PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia. [PDF]

Invest Ophthalmol Vis Sci, 2020
PURPOSE: To investigate the association between PAX6 genotype and macular morphology in congenital aniridia. METHODS: The study included 37 participants (15 males) with congenital aniridia (aged 10–72 years) and 58 age-matched normal controls (18 males).
Pedersen HR, Baraas RC, Landsend ECS, Utheim ØA, Utheim TP, Gilson SJ, Neitz M.   +6 more
europepmc   +2 more sources

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 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

mRNA and microRNA Expression Profile of Corneal and Conjunctival Impression Cytology Samples

Biology
Purpose: To characterize the messenger RNA (mRNA) and microRNA (miRNA) expression profiles of the normal human cornea and conjunctiva using impression cytology (IC) samples and to investigate their molecular characteristics and regulatory networks ...
Shuailin Li, Tanja Stachon, Fabian Norbert Fries, Berthold Seitz, Nicole Ludwig, Nóra Szentmáry   +5 more
doaj   +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

CoCl2-induced alterations in antioxidative and inflammatory marker expression in an siRNA-based in vitro model of aniridia-associated limbal epithelial dysfunction

BMC Ophthalmology
Background Congenital aniridia is a rare disease, accompanied by aniridia associated keratopathy (AAK) in most cases. Oxidative stress and inflammation are involved in the progression of AAK.
Shao-Lun Hsu, Nóra Szentmáry, Fabian N. Fries, Zhen Li, Ning Chai, Berthold Seitz, Maryam Amini, Shweta Suiwal, Tanja Stachon   +8 more
doaj   +1 more source