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About 770 results

ALLMedicine™ Aniridia Center

Research & Reviews  287 results

Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon c...
https://doi.org/10.1080/13816810.2022.2144904
Ophthalmic Genetics; Torrefranca AB, Carmona SM et. al.

Nov 29th, 2022 - Mutations in PAX6 gene (chromosome 11p13) encoding a transcriptional regulator involved in oculogenesis mostly present with aniridia. Aniridia is not uncommon in the Philippines but only limited information is available as yet. The purpose of this...

Non-canonical Wnt signaling in the eye.
https://doi.org/10.1016/j.preteyeres.2022.101149
Progress in Retinal and Eye Research; Shah R, Amador C et. al.

Nov 29th, 2022 - Wnt signaling comprises a group of complex signal transduction pathways that play critical roles in cell proliferation, differentiation, and apoptosis during development, as well as in stem cell maintenance and adult tissue homeostasis. Wnt pathwa...

Evaluation of the factors that influence surgical outcome in conjunctival-limbal allogr...
https://doi.org/10.1038/s41433-022-02314-w
Eye (London, England); Kasikci M, Korkmaz I et. al.

Nov 25th, 2022 - To evaluate the surgical results and the variables affecting the outcomes in conjunctival-limbal allograft transplantation (CLAL). Patients who underwent CLAL for limbal stem cell deficiency (LSCD) between 2007 and 2019 were included in the study....

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and mic...
https://doi.org/10.1371/journal.pone.0268149
PloS One; Hall HN, Bengani H et. al.

Nov 23rd, 2022 - Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (...

Outcomes of keratolimbal allograft from ABO compatible donors for severe bilateral limb...
https://doi.org/10.1016/j.jtos.2022.11.002
The Ocular Surface; Mimouni M, Cole E et. al.

Nov 13th, 2022 - To report outcomes of keratolimbal allograft (KLAL) compatible for both human leukocyte (HLA) and/or blood type using oral prednisone, mycophenolate, and tacrolimus, with basiliximab if panel reactive antibodies (PRA) are present. Intravenous immu...

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Clinicaltrials.gov  15 results

Comparison of the Healing Properties on Corneal Cells of Groth Factor-enriched Plasma and Autologous Serum From Aniridia Patients
https://clinicaltrials.gov/ct2/show/NCT05400590

Sep 22nd, 2022 - Blood collection from aniridia patients and healthy controls, half of which will be used to make autologous serum and the other half to make growth factor rich plasma, used for in vitro studies. A conjunctival impression will also be taken at the ...

Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population
https://clinicaltrials.gov/ct2/show/NCT04658381

Jul 21st, 2022 - Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes. Ophthalmological manifestations are a constant feature of this disease. Albinism is believed...

Congenital Aniridia Patient Questionnaire
https://clinicaltrials.gov/ct2/show/NCT05390801

Jul 11th, 2022 - Congenital aniridia is a pan-ocular genetic characterized by partial or complete absence of the iris, hence its name. The prevalence ranges from 1 / 40,000 to 1 / 96,000 births, but it may be underestimated. This condition combines several types o...

Study of Ataluren in Participants With Nonsense Mutation Aniridia
https://clinicaltrials.gov/ct2/show/NCT02647359

May 27th, 2022 - This study is designed to evaluate the effect of ataluren on Maximum Reading Speed as measured using the Minnesota Low Vision Reading Test (MNREAD) Acuity Charts in participants with nonsense mutation aniridia. This study involves a 4-week screeni...

Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor
https://clinicaltrials.gov/ct2/show/NCT00945009

Mar 25th, 2022 - OBJECTIVES: I. To improve 4-year event-free survival (EFS) to 73% for young patients with bilateral Wilms tumor (BWT). II. To prevent complete removal of at least one kidney in 50% of patients with BWT by using prenephrectomy 3-drug chemotherapy i...

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News  4 results

NCCN Issues First-Ever Guidance for Pediatric Solid Tumor
https://www.onclive.com/view/nccn-issues-first-ever-guidance-for-pediatric-solid-tumor

Oct 6th, 2021 - The National Comprehensive Cancer Network (NCCN) has issued guidelines for the management of children with a rare type of kidney cancer referred to as Wilms Tumor, or nephroblastoma.1 The document highlights evidence-based recommendations for how...

A 1-Week-Old Baby With Bilateral Cataracts
https://www.medscape.com/viewarticle/910536_3

Mar 22nd, 2019 - Discussion Anterior polar cataracts constitute approximately 3% of congenital cataracts.[1] They appear as small opacities on the anterior surface of lens. There are three subtypes of anterior polar cataracts: polar, subcapsular, and pyramidal. Po...

FDA OKs First Prosthetic Iris
https://www.medpagetoday.com/ophthalmology/generalophthalmology/73181

May 30th, 2018 - The FDA approved the first stand-alone prosthetic iris on Wednesday for adults and children with aniridia, a rare congenital condition, or other damage to the eye. Made of thin and foldable medical-grade silicone, CustomFlex Artificial Iris is ind...

Acquired Childhood Glaucoma More Prevalent Than Congenital Glaucoma
https://www.medscape.com/viewarticle/720072

Apr 12th, 2010 - April 12, 2010 — Acquired childhood glaucoma is more prevalent than congenital types of glaucoma, according to the results of a population-based study reported in the April issue of the Archives of Ophthalmology. "Childhood glaucoma is an uncommon...

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Patient Education  2 results see all →