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About 798 results

ALLMedicine™ Aniridia Center

Research & Reviews  296 results

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10010443
Investigative Ophthalmology & Visual Science; Wang P, Wu P et. al.

Mar 10th, 2023 - Biallelic MAB21L1 variants have been reported to cause autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG), whereas only five heterozygous pathogenic variants have been suspected to cause autosomal dominant (AD) micro...

Cosmetic iris implants - double edge sword.
https://doi.org/10.1177/11206721231160989
European Journal of Ophthalmology; Chauhan T, Chaturvedi I et. al.

Mar 1st, 2023 - Iris implants were originally described as an option to treat photophobia and glare associated with aniridia, coloboma, corectopia or any other causes of acquired or congenital iris defects. They are not designed to be used in healthy phakic eyes ...

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

Feb 21st, 2023 - 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

Feb 17th, 2023 - 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...

Postoperative results after iris reconstruction with an Artificialiris® implant with co...
https://doi.org/10.1177/11206721231156204
European Journal of Ophthalmology; Riedl JC, Pfeffer N et. al.

Feb 15th, 2023 - To test the hypothesis that severely damaged eyes are more likely to experience postoperative complications after an ArtificialIris® (AI) implantation than other iris defects. Patients after iris reconstruction with an AI were included in this con...

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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

Feb 21st, 2023 - 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

Feb 17th, 2023 - 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

Jan 18th, 2023 - 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...

Timing of Glaucoma Drainage Device With Boston Keratoprosthesis
https://clinicaltrials.gov/ct2/show/NCT02084745

Nov 17th, 2022 - INTRODUCTION: Glaucoma is a major problem for KPro candidates. Indeed, many diagnostic indications for KPro such as aniridia, chemical burns, trauma and repeated graft failure imply alteration of the iridocorneal angle, and consequently high intra...

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...

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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  4 results see all →