Results 31 to 40 of about 5,544 (177)

Similarities in DSG1 and KRT3 Downregulation through Retinoic Acid Treatment and PAX6 Knockdown Related Expression Profiles: Does PAX6 Affect RA Signaling in Limbal Epithelial Cells?

Biomolecules, 2021
Congenital PAX6-aniridia is a rare panocular disease resulting from limbal stem cell deficiency. In PAX6-aniridia, the downregulation of the retinol-metabolizing enzymes ADH7 (All-trans-retinol dehydrogenase 7) and ALDH1A1/A3 (Retinal dehydrogenase 1 ...
Lorenz Latta, Igor Knebel, Constanze Bleil, Tanja Stachon, Priya Katiyar, Claire Zussy, Fabian Norbert Fries, Barbara Käsmann-Kellner, Berthold Seitz, Nóra Szentmáry   +9 more
doaj   +1 more source

Congenital aniridia- there's more than meets the eye

TNOA Journal of Ophthalmic Science and Research, 2021
Congenital aniridia is a rare panocular disorder, leading to significant visual impairment which may present as an isolated ocular phenotype or in association with a systemic syndrome.
G N Subathra, Indira Durai, Sahithya Bhaskaran   +2 more
doaj   +1 more source

Congenital aniridia

Indian Journal of Ophthalmology, 1980
Sen N, George N, Munjal V, Dhir S, Jain I   +4 more
doaj   +2 more sources

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

Klin Monbl Augenheilkd, 2023
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   +3 more sources

Ophthalmic Aspects of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis: A Narrative Review

Ophthalmology and Therapy, 2023
The aim of our review article was to summarize the current literature on Stevens–Johnson syndrome (SJS) and its severe form, toxic epidermal necrolysis (TEN).
Gábor Tóth, Andrea Lukács, Frank Schirra, Gábor L. Sándor, Petra Killik, Otto A. Maneschg, Zoltán Z. Nagy, Nóra Szentmáry   +7 more
doaj   +1 more source

Psychoneurological Disorders in Children with Congenital Aniridia and PAX6-Associated Syndromes

Вопросы современной педиатрии, 2023
Congenital aniridia manifests with total or partial absence of the iris. The association of the disease with the PAX6 gene has been proven. Changes in the PAX6 structure lead to intrauterine pathology, visual organ malformation, malformation of master ...
Olga S. Kupriyanova, George A. Karkashadze, Natalia V. Zhurkova, Leila S. Namova-Baranova, Ayaz M. Mamedyarov   +4 more
doaj   +1 more source

Effects of Aberrant Pax6 Gene Dosage on Mouse Corneal Pathophysiology and Corneal Epithelial Homeostasis [PDF]

, 2011
Background: Altered dosage of the transcription factor PAX6 causes multiple human eye pathophysiologies. PAX6(+/-) heterozygotes suffer from aniridia and aniridia-related keratopathy (ARK), a corneal deterioration that probably involves a limbal ...
Fullwood, Nigel J., Martin, Francis L., Collinson, J. Martin, Richard L Mort, Morley, Steven D., Morley Steven D., West John D., Bentley, Adam J., Adam J Bentley, Mort, Richard L, Collinson J. Martin, Panagiotis Douvaras, Collinson, J Martin, J Martin Collinson, Bentley Adam J., Mort Richard L., Martin, Francis L, Bentley, Adam J, Morley, Steven D, Martin Francis L., Douvaras, Panagiotis, Steven D Morley, Robert E Hill, Mort, Richard L., West, John D., Hill, Robert E, Fullwood, Nigel J, Nigel J Fullwood, Douvaras Panagiotis, Fullwood Nigel J., Francis L Martin, Hill Robert E., Hill, Robert E., West, John D, John D West   +34 more
core   +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

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

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