Because aniridia is rare and complex, as well as having associated conditions it can be difficult to get reliable information about it. Our panel of medical experts help us understand the causes, symptoms, assessment, prognosis and treatment of aniridia. This includes issues relating to:
- genetic mutations, deletions and inheritance.
- eye conditions: cataracts, glaucoma, nystagmus, dry eye, keratopathy, strabismus and retina diseases.
- central auditory processing disorder
- WAGR/11p Deletion Syndrome
If you are a member and have a question or want information, about these or other areas contact us at firstname.lastname@example.org
If we cannot answer ourselves we will send your question on to our Medical Adviser or one of the specialist panel members below.
- Melanie Hingorani
- Mr Sajjad Ahmad
- Dr Doris Bamiou
- Professor Graeme Black
- Dr Amanda Churchill
- Professor Julie Daniels
- Professor Bal Dhillon
- Professor Irene Gottlob
- Professor Sir Peng Khaw
- Dr Mariya Moosajee
- Professor Kathy Pritchard-Jones
- Professor Veronica van Heyningen CBE
- Mr Jay Self
- Martin Collinson
- Paediatric ophthalmology, particularly aniridia, ocular surface diseases, ocular allergy squint and ocular motility.
- Chair of Professional Standards at the Royal College of Ophthalmologists
- Chair of the UKOA, the UK Ophthalmology Alliance.
Mr Sajjad Ahmad
Consultant ophthalmic surgeon at Moorfields Eye Hospital and Honorary Senior Lecturer at the UCL Institute of Ophthalmology.
He has a clinical and basic science research interest in aniridia related keratopathy (ARK), the corneal changes associated with aniridia and PAX6 mutations. His interest is in the developed of novel stem cell-based therapies for the corneal disease.
Senior Lecturer and Consultant in Audiovestibular Medicine; auditory processing disorders at UCL Ear Institute, National Hospital for Neurology and Honorary Consultant at Great Ormond Street Hospital.
- First to show aniridia-associated auditory processing problems in adults and children.
- Director of the MSc in Audiovestibular Medicine at UCL and F1000 Faculty Member.
- Investigating genetic disorders associated with visual disability.
- Studies pathogenetic mechanisms underlying a range of human corneal dystrophies, also retinal disease and anophthalmia, microphthalmia.
- Developing models of care for inherited eye diseases.
- Director, Institute of Human Development, Faculty of Medical & Human Sciences and Deputy Director of Biomedical Research Centre. Runs “new generation sequencing” centre for ophthalmic genetics.
- Identifying the molecular cause of several developmental eye conditions, such as aniridia, Peters’ anomaly, Rieger’s anomaly/syndrome, congenital glaucoma and dominant optic atrophy.
Professor of Regenerative Medicine & Cellular Therapy and Director of Cells for Sight Stem Cell Therapy Research Unit at UCL Institute of Ophthalmology.
- Scientist interested in the treatment of cornea with stem cells.
- Runs Cells for Sight Stem Cell Therapy Research Unit, a MHRA licensed state-of-the-art GMP facility available to academic and commercial researchers for the manufacture of Advanced Therapy Medicinal Products.
- Member of Aniridia Europe Committee.
- Regenerative ophthalmology, macula disease, ocular imaging at Edinburgh Royal Infirmary, Lothian University Hospitals NHS Trust
- Also: Honorary Professor of Visual Impairment Studies, Heriot Watt University
- Regulation of eye movements and their disorders, in particular nystagmus.
- Particular interest at foveal development and genetics of nystagmus.
- Section editor of the British Journal of Ophthalmology.
- Glaucoma Studies and wound healing research.
- Long track record of developing new treatments from laboratory through to international clinical trials.
- Awarded the first ARVO/Pfizer international prize for translational research benefiting people around the world.
- Also: President of the Association for Research in Vision and Ophthalmology (ARVO) 2012-2013,
- Director, NIHR Biomedical Research Centre for Translational Eye Research.
- Knighted in 2013 for services to ophthalmology.
Dr Mariya Moosajee
Consultant Ophthalmologist, Senior Lecturer and Wellcome Trust Beit Prize Clinical Research Career Development Fellow at Moorfields Eye Hospital, Great Ormond Street Hospital for Children and UCL Institute of Ophthalmology, London.
Specialises in genetic eye disease including aniridia, anterior segment dysgenesis, congenital cataracts, glaucoma, microphthalmia, anophthalmia and ocular coloboma and inherited retinal diseases.
Areas of research:
- Understanding the molecular basis of genetic eye disorders
- Establishing the genotype-phenotype relationship through detailed clinical phenotyping studies to identify optimal treatment windows and outcome measures for clinical trials
- Development of novel therapeutic approaches for genetic eye disease including nonsense suppression therapy (ataluren, PTC-derivatives and NB compounds) anti-cell death and antioxidant drugs, and gene therapy using non-viral gene delivery systems including scaffold matrix attachment region (S/MAR) vectors.
- Expert in molecular biology of renal tumours, part of WAGR syndrome.
- Running Phase III trial for newly diagnosed kidney cancer children in the UK.
- Vice Chairman and UK lead within the International Society of Paediatric Oncology Renal Tumours Study Group (SIOPRTSG)
- Expertise in ocular genetics, paediatric ophthalmology, paediatric cataract and eye movement disorders.
- Research interests in nystagmus and high throughput genetic testing in clinical practice.
- Interest in public engagement in science and advisor to the Nystagmus Network, IN-Vision and Gift of Sight charities.
- Expert in the genetics of aniridia and related developmental abnormalities of the eye.
- Following retirement from the Human Genetics Unit Medical Research Council, continues to collaborate with scientists and clinicians on the genetics of eye disease both in Edinburgh and at Institute of Ophthalmology, UCL.
Medical Research Monitor
Professor Martin Collinson at The Institute of Medical Sciences, University Aberdeen
Doctors and researchers often publish articles about their work. Sometimes these are freely available online or with a limited distribution. Even those we do hear of, can be quite impenetrable for lay people. It is also often not clear how new or useful the content really is.
So we sought a professional to look out for developments that are worth people working with and affected by aniridia knowing about. Prof Martin Collinson has kindly volunteered. He will rephrase the reports it into plain English, and provide explanations to make them understandable. Read Martin’s articles.