Medical advice

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 enquiries@aniridia.org.uk
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

Medical Adviser

Melanie Hingorani

Consultant ophthalmic surgeon at Moorfields Eye Hospital.

• 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.

Medical Panel

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.

Dr Doris Bamiou

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.

Professor Graeme Black

Ophthalmologist. Professor and Honorary Consultant in Genetics and Ophthalmology at Manchester Academic Health Science Centre, University of Manchester.

• 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.

Dr Amanda Churchill

Consultant Senior Lecturer in Ophthalmology at Bristol Eye Hospital.

• 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 Julie Daniels

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.

Professor Bal Dhillon

Professor of Clinical Ophthalmology at the University of Edinburgh and Honorary Consultant Princess Alexandra Eye Pavilion, Edinburgh.

• 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

Professor Irene Gottlob

Professor of Ophthalmology and Honorary Consultant in Ophthalmology at the University of Leicester; Leicester Royal Infirmary.

• 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.

Professor Sir Peng Khaw

Consultant Ophthalmic Surgeon at Moorfields Hospital and the Institute 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.

Professor Kathy Pritchard-Jones

Professor of Paediatric Oncology, Consultant at UCL Institute of Child Health, Great Ormond Street Hospital, London

• 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)

Mr Jay Self

Consultant Ophthalmologist and Senior Lecturer University of Southampton

• 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.

Professor Veronica van Heyningen CBE

Honorary Professor at University of Edinburgh and
Honorary Professor at University College London

• 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.

Also: Patron of Aniridia Network

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.