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About 785 results

ALLMedicine™ Aniridia Center

Research & Reviews  291 results

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
https://doi.org/10.1167/iovs.64.2.5
Investigative Ophthalmology & Visual Science; Li W, He XD et. al.

Feb 3rd, 2023 - The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs). To determine the etiological role of de novo mutations (DNMs) and ge...

Artificial iris: state of the art.
https://doi.org/10.1097/j.jcrs.0000000000001147
Journal of Cataract and Refractive Surgery; Gius I, Tozzi L et. al.

Feb 1st, 2023 - Surgical correction of traumatic aniridia aims to improve quality of vision, compartmentalize anterior and posterior chamber, re-establish a satisfying cosmetic appearance. Various types of prosthetic iris devices (PIDs) are available, that differ...

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...

Early ocular surface and tear film status in congenital aniridia indicates a supportive...
https://doi.org/10.1136/bjo-2021-320774
The British Journal of Ophthalmology; Fries FN, Moslemani K et. al.

Dec 15th, 2022 - To evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia. 45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study. Whole-exome sequencing identified the causat...

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

Dec 7th, 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 ...

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Clinicaltrials.gov  15 results

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...

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

Dec 7th, 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 ...

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...

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...

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 →