Results 31 to 40 of about 246,741 (174)

Bitot-like Spots and Congenital Aniridia: A Case Report. [PDF]

J Clin Med
Background: Bitot’s spots, defined as white foamy triangular or round-shaped spots with the base located at the temporal limbus and the apex towards the lateral canthus, were initially associated with vitamin A deficiency (VAD).
Mocanu V, Horhat R, Horhat FR, Poenaru-Sava M.   +3 more
europepmc   +2 more sources

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

Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window. [PDF]

Br J Ophthalmol, 2023
AimTo evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia. Methods45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study.
Fries FN, Moslemani K, Utheim TP, Seitz B, Käsmann-Kellner B, Lagali NS.   +5 more
europepmc   +2 more sources

The Retina in Congenital Aniridia - Structural, Functional and Genetic Variability [PDF]

, 2020
Aniridia is a rare, congenital eye disorder most commonly caused by a mutation in the PAX6 gene, which affects eye development and leads to a range of ocular anomalies, including iris- and foveal hypoplasia and vision impairment.
Pedersen, Hilde Røgeberg
core   +2 more sources

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

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

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

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