Monthly Archives: May 2011

Trying to obtain melatonin

During my visit to the National Institute For Health (NIH) in 2009 to participate in the WAGR/11p Deletion Syndrome research, one of the findings was that I had a smaller than average pineal gland. The NIH research and previous studies … Continue reading

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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

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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

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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

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Protected: Newcomer’s review of Conference 2011

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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

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Protected: Mobility session report from Conference 2011

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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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Recruiting guide dog Connie

After retiring my guide dog Sandie I received an e-mail asking if I would be prepared to consider a German Shepherd as they have very different temperaments and need different handling to the two labradors I have had before.  I … Continue reading

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Retiring guide dog Sandie

Some of you may remember the daily diary I did on the Aniridia Network International Yahoo group about my guide dog training with Sandie. That little pint sized yellow labrador is now 8 and has been working for just over … Continue reading

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