Results 21 to 30 of about 19,020 (198)

A nonsense mutation in a family with congenital aniridia [PDF]

Korean Journal of Pediatrics, 2016
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an ...
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong   +4 more
doaj   +1 more source

Fungal Keratitis Following Application of Dehydrated Amniotic Membrane (Omnigen) With (OmniLenz) Bandage Contact Lens. [PDF]

Case Rep Ophthalmol Med
Background Amniotic membrane is a common treatment option for several corneal and conjunctival conditions. There are several methods for preserving amniotic membrane, and each involves some compromise of the tissue integrity. Dehydrated amniotic membrane has been used for several indications, including microbial infections, aniridia, chemical burns ...
Alsaif BA, Alfaraidi AT, Alshabeeb R.
europepmc   +2 more sources

A Case of Foldable Artificial Iris Implantation for Treatment of Postcataract Surgery Aniridia

Case Reports in Ophthalmology, 2023
We report an approach for managing acquired aniridia induced by intraoperative floppy iris syndrome (IFIS) during cataract surgery. An 81-year-old man with right blurred vision and photophobia symptoms was treated for extensive iris defects due to ...
Norihiro Watanabe, Shinichiro Kobayakawa
doaj   +1 more source

A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD

BMC Medical Genomics, 2023
Background The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.
Qian Wang, Wen Bin Wei, Xiang Yu Shi, Wei Ning Rong   +3 more
doaj   +1 more source

Management of Mixed Mechanism Glaucoma Secondary to NewColorIris Implant Using an Ab Externo Xen Gel Stent. [PDF]

Case Rep Ophthalmol Med
Background and Aims We present a case of mixed mechanism glaucoma following NewColorIris implant that was successfully treated using an off‐label use of Xen Gel Stent. Methods A retrospective review of the patient′s medical records was conducted following the acquisition of informed consent.
Sangani R, Shukla P, Habiel MM.
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

Novel clinical presentation and PAX6 mutation in families with congenital aniridia

Frontiers in Medicine, 2022
PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded.
Ruru Guo, Xiaotian Zhang, Xiaotian Zhang, Aihua Liu, Jian Ji, Wei Liu   +5 more
doaj   +1 more source

In Vitro Analysis of Gene and Protein Expression in Primary Limbal Epithelial Cells Exposed to Differentiation-Inducing Medium

Biology
Purpose: To study the time course of the differentiation process and its regulatory networks in primary limbal epithelial cells (pLECs) using serum-free, low calcium Keratocyte growth medium 3 (KGM3) and CnT-2D differentiation medium. Methods: pLECs were
Shweta Suiwal, Virendra Kumar, Tanja Stachon, Priya Katiyar, Fabian N. Fries, Berthold Seitz, Shuailin Li, Shao-Lun Hsu, Shanhe Liu, Swarnali Kundu, Maryam Amini, Sabrina Häcker, Nóra Szentmáry   +12 more
doaj   +1 more source

Characteristics and Utility of Fundus Autofluorescence in Congenital Aniridia Using Scanning Laser Ophthalmoscopy [PDF]

, 2019
PURPOSE. To investigate fundus autofluorescence (FAF) and other fundus manifestations in congenital aniridia. METHODS. Fourteen patients with congenital aniridia and 14 age- and sex-matched healthy controls were examined. FAF images were obtained with an
Utheim, Tor P.,, Rueegg, Corina S., Landsend, Erlend Christoffer Sommer, Pedersen, Hilde R.,, Landsend, Erlend C. S., Pedersen, Hilde Røgeberg, Pedersen, Hilde R., Utheim, Oygunn A.,, Moe, Morten C.,, Moe, Morten C., Utheim, Tor Paaske, Baraas, Rigmor C., Rueegg, Corina Silvia, Landsend, Erlend C. S.,, Lagali, Neil, Moe, Morten Carsten, Utheim, Tor P., Utheim, Oygunn A., Bragadottir, Ragnheidur,, Baraas, Rigmor C.,, Utheim, Øygunn Aass, Bragadottir, Ragnheidur, Lagali, Neil,, Rueegg, Corina S.,   +23 more
core   +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