Abstract
Congenital anophthalmia and microphthalmia are rare developmental defects of the globe. They often arise in conjunction with other ocular defects such as coloboma and orbital cyst. They may also be part of more generalised syndromes, such as CHARGE syndrome. Anophthalmia, microphthalmia, and coloboma are likely to be caused by disturbances of the morphogenetic pathway that controls eye development, either as a result of primary genetic defect, or external gestational factors, including infection or drugs that can influence the smooth processes of morphogenesis.
The ophthalmologist is often the primary carer for children with anophthalmia and microphthalmia, and as such can coordinate the multidisciplinary input needed to offer optimal care for these individuals, including vision and family support services. They are able to assess the vision and maximise the visual potential of the child and they can also ensure that the cosmetic and social impact of anophthalmia or microphthalmia is minimised by starting socket expansion or referring to a specialist oculoplastics and prosthetics unit. A coordinated approach with paediatrics is necessary to manage any associated conditions. Genetic diagnosis and investigations can greatly assist in providing a diagnosis and informed genetic counselling.
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Acknowledgements
Nicola Ragge is a Senior Surgical Scientist supported through an Academy of Medical Sciences and Health Foundation Fellowship. www.acmedsci.ac.uk; www.health.org.uk. We are extremely grateful to many who support the specialist anophthalmia and microphthalmia services, in particular our consultant colleagues, Mr Yassir Abou-Rayyah, Dr Alison Salt; the prosthetists: Nigel Sapp, David Carpenter and Peter Coggin; Marie Restori for ultrasound, Medical Illustration, Chris Timms and all the orthoptists, the paediatric nurses, Christine Ennals, family support services, Dr Graham Holder Electrodiagnostics Dept., optometry services, and Celestria Bell for family liaison. We acknowledge with deepest gratitude the generous support from the Eyeless Trust, VICTA and the Polak Trust. Above all, we wish to dedicate this article to the individuals with anophthalmia and microphthalmia and their families.
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Ragge, N., Subak-Sharpe, I. & Collin, J. A practical guide to the management of anophthalmia and microphthalmia. Eye 21, 1290–1300 (2007). https://doi.org/10.1038/sj.eye.6702858
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DOI: https://doi.org/10.1038/sj.eye.6702858
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