9th October 2009

Post Graduate Centre

City Hospital

Dudley Road

Birmingham

B18 7QH

09:30-10:00

Registration and Coffee

10:00-10:15

Introduction

10:15-11:15

Session One:  Retinoblastoma – the Birmingham Experience –John Ainsworth, Consultant Paediatric Ophthalmologist and Dr Trevor Cole, Consultant Geneticist
11:15-11:45 Coffee

Session Two

Cases from the Floor – to include Best Trainee Prize

13:00-13:45

Lunch

Session Three

The Use of Autozygosity Mapping in the Identification of Rare Autosomal Recessive Conditions

13:45-14:00

Nonsense Mutation in TMEM126A causing Autosomal Recessive Optic Neuropathy and Auditory Neuropathy – Professor Eamonn Maher, Professor of Medical Genetics, Birmingham

14:00-14:15

A New Bardet-Biedl Syndrome Locus – Dr Geoff Woods, Consultant Geneticist, Cambridge

14:15-14:30 

Homozygosity Mapping used to Identify Genes for Microphthalmia and Anophthalmia: FOXE3…  – Miss Nicky Ragge, Honorary Consultant in Paediatric Ophthalmology, Birmingham 

14:30-14:45

Mutations in the Putative Mg2+ Transporter CNNM4 Cause Amelogenesis Imperfecta and Cone-Rod Dystrophy – Professor Chris Ingelhearn, Professor of Molecular Ophthalmology, University of Leeds 

14:45-15:05

Presentation of Trainee Prize followed by Tea 

Session Four

The Eye in Complex Disorders

15:05-15:25

Von Hippel Lindau Disease – Professor Eamonn Maher 

15:25-15:45

Optic Tumours in the Neurofibromatosis – Tim Matthews, Consultant Ophthalmologist, Birmingham 

15:45-16:05

The Contribution of the Clinical Scientist to the Diagnosis and Assessment of Genetic Eye Disease – Dr Peter Good, Consultant Clinical Scientist, Birmingham 

16:05

Summary and Future Plans 

16:15

aClose of Meeting