The hotel’s breakfast buffet was certainly broad but not quite enough to include staple English breakfast elements such as bacon and hash browns or fried bread. It was sautéed potatoes and mini sausages instead.
After breakfast I took a walk In beautiful sunshine to explore Oslo. The royal palace park was lovely, very well cared for. The palace itself was covered in scaffolding though.
Next, dodging the trams, I made my way down to Aker Brygge – the docks on Oslo Fijord. It’s a popular area with shopping, apartments, offices, restaurants and bars. Ferries numbered like buses leave for the islands from here.
Back at the hotel I met up with Katie and the conference began. Professor Moore gave a useful introductory talk. There was some jargon that I struggled with. “Phenotype” eventually became clear as meaning typical symptoms. Other terms I had to Google to find explanations for.
Dr Gottlob then presented some fascinating graphs showing nystagmus eye movements and the differences between these movements in patients with PAX6 mutations (aniridia), albinism and foveal hypoplasia alone. In those with aniridia it was found to often have large amplitude and vertical pendulous motion. We also saw imagery showing how the fovea cup is a lot shallower or entirely absent. There may be a causal relationship with nystagmus here.
Next Dr Ulla Edén presented a talk on “Epidemiology and 8 years follow-up study of Scandinavian aniridia patients”. One of key findings was that in the Swedish population under 20 years old the incidence of sporadic and familial aniridia was found to be around 1 in 47,000. That makes aniridia twice as common or half as rare as older sources stated. They don’t believe the number of people with aniridia is increasing, rather that diagnosis is getting better so patients that would previously have been missed are now being identified thanks to more robust health care practices.
Jill Nerby founder and director of AFI then took to the stage to talk about all aspects of living with aniridia. She used quotes from the book about aniridia that she jointly authored.
The infrequently occurring Aniridic Fibrosis Syndrome was discussed by Dr Chris Riemann, Aniridia itself makes this difficult to diagnose early enough for effective treatment. As well as scans he advocated use of an endoscope for examination & surgery.
The last speakers focused on the brain. Dr Yogarajah talked about the smaller effects PAX6 can have on brain development. A recorded presentation by Dr Bamiou about PAX6 and Auditory Processing Disorder was then played. Afterwards Dr Bamiou answered question live via Skype.
A question and answer session with a panel of all the presenters ended the day.
After a quick snooze back in my room I returned for dinner and chatting with other delegates. I took part in a meeting of the Aniridia Europe website editorial team. I offered to help review the content to ensure it is in plain English has good usability.
Finally Katie and I went up to the sky bar for drinks and discussion about current Aniridia Network UK issues.
Use the links at the top or bottom of this article to read about the other days at the conference.