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Author Archives: Aniridia Network
Andrew’s Central Auditory Processing Disorder
I was born with congenital aniridia (sporadic) and nystagmus. At school I struggled and was regarded as being dyslexic. Then after leaving school and going to college I was told that I was not dyslexic. I could not understand why this was, but … Continue reading
Protected: Mary’s annual mobility training
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Seminar about unlicensed treatments such as melatonin
Following our recent posts about melatonin we have news of a upcoming event about unlicensed and off-label treatments – which melatonin is, Patients Involved in NICE (PIN) in collaboration with RNIB, will be holding a seminar looking at the impact using unlicensed treatment has … Continue reading
Posted in Medical staff talking, Other agencies
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Study into frequency of glaucoma and other diseases in patients with aniridia
Purpose To evaluate the following in patients with aniridia age at first examination at the University Eye Hospital and age at diagnosis of glaucoma visual acuity frequency of family history of aniridia and frequency of ocular and general diseases associated … Continue reading
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
Purpose: To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia. Methods: A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) … Continue reading
Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation
Purpose: To evaluate the asymmetry of the anterior segment phenotype between the two eyes of a patient with Axenfeld-Rieger syndrome (ARS). Methods: The entire database of a tertiary glaucoma practice was screened for patients with ARS. The medical records of patients with … Continue reading
Protected: Newcomer’s review of Conference 2011
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Posted in Aniridia Network news, Parents' accounts
Tagged Conference
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Conference 2011 review
The Aniridia Network UK conference 2011 was on 14 May. It was a big success. Newcomer Jane said “The highlight of the day for me was definitely being able to meet other parents of children with aniridia, sharing experiences with those … Continue reading
Protected: Mobility session report from Conference 2011
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Posted in Education professionals sharing, Other agencies
Tagged Conference, mobility
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Central Auditory Processing Disorder presentation
Central Auditory Processing Disorder ([C]APD) affects learning has been linked to the same gene which causes aniridia. Expert Dr Doris Bamiou talked and answered questions about it at our 2011 conference. Below are the slides and a recording of her … Continue reading
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