Anophthalmia is a rare developmental abnormality. It is part of a range of abnormalities in which babies are born with no eye in the eye socket (anophthalmia) or with a small eye in the eye socket (microphthalmia). Anophthalmia can affect both eyes, in which case the baby will be blind, or only one eye in which case the baby may have normal vision in the other eye.

Anophthalmia or severe microphthalmia occurs in 3 to 7 in 100,000 live births. This means that in England and Wales there are only about thirty to thirty-five babies born each year with anophthalmia or severe microphthalmia. About half of these babies have other developmental problems in addition to anophthalmia. The condition is likely to occur because the delicate sequence of early developmental steps to form an eye is disrupted in some way. These signals for development in the embryo come from the genes within the developing cells. The exact mechanism is not fully understood, but a disruption of this process can occur through external factors during pregnancy or an error in the genes themselves. The occurrence of anophthalmia and microphthalmia has been related to some illnesses during pregnancy including virus infections, such as rubella (German measles) and varicella (chicken pox). It has also been linked to some drugs taken during pregnancy, including recreational drugs and thalidomide. There has been a suggestion that insecticides and fungicides used to spray crops may be related to anophthalmia, but to date there is no scientific evidence to support this. Over the last few years a few genes have been described that are important in anophthalmia or a related condition, microphthalmia. These eye development genes include SOX2, Rx, SHH (sonic hedgehog), CHX10, BCOR, and PAX6. Whilst many of these genes have only been described so far in association with a few families worldwide, SOX2 seems to be important in around ten per cent of children with anophthalmia.

It is not possible to restore sight to a baby with anophthalmia affecting both eyes. However artificial eyes, usually made of acrylic and painted to look like real eyes, are used to help with the cosmetic appearance. Treatment is beneficial for these babies from a very early age. If a baby is born without an eye in the socket, the eye socket does not receive the correct signals to grow properly. This results in a small socket and it may be difficult to fit artificial eyes later to these children. Therefore it is important that babies born without an eye or with a very small eye are referred for assessment at a specialist centre as soon after the birth as possible. In this way they can be fitted with artificial eyes which will help to stimulate socket growth and will help cosmetically.

Inheritance patterns
There are some families where anophthalmia and microphthalmia can be genetically inherited. However, most cases are isolated. Since anophthalmia may be genetically determined in some cases, even if there appears to be only one individual affected in the family, it is important for families to obtain accurate genetic counselling about the possible risk of any further children having a similar condition.

Prenatal diagnosis
It is possible to diagnose anophthalmia on ultrasound scan. Unfortunately the resolution of ultrasound scans at present means that it is not possible to make the diagnosis with any certainty until well into the second trimester. As anophthalmia is rare, and there is not usually more than one case within a family, the diagnosis may well not be detected until the major scan at around twenty weeks' gestation. With current knowledge, blood tests during pregnancy will not alert doctors to the possibility of anophthalmia. Amniocentesis will show up a chromosome abnormality, which occurs in a small proportion of babies with anophthalmia, usually those with several other developmental anomalies. In families where a causative gene has been identified prenatal testing may be possible.

Medical text written November 1995 by Mr A J Vivian, Consultant Ophthalmic Surgeon, West Suffolk Hospital, Bury St Edmunds, UK. Last updated October 2004 by Miss Nicola Ragge MD FRCOphth FRCPCH, Honorary Consultant Ophthalmic Surgeon, Moorfields Eye Hospital, London, UK and Birmingham Children's Hospital, Birmingham, UK and Senior Surgical Scientist, University of Oxford, Oxford, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

M.A.C.S.

M.A.C.S.
22 Lower Park Street
Holyhead LL65 1DU
Tel: 0800 169 8088 Freephone
e-mail enquiries@macs.org.uk
Web: http://www.macs.org.uk

M.A.C.S. (Micro & Anophthalmic Children's Society) is a National Registered Charity No.1040074, established in 1993. It offers support by telephone and letter, and linking with other families where requested. Activities include raising awareness of the condition, a network of regional family contacts, regional meetings, and a family weekend/AGM. It publishes a newsletter and has information available, details on request. The organisation has over 400 UK members and over 150 overseas members.

Group details last updated July 2007.

EYELESS TRUST

Eyeless Trust
PO Box 1248
Slough
SL2 3GH
Tel: 01494 672006 (Lillian Ramsay, Social Work Consultant)
Tel: 020 8852 2469 (Mari Everard, Director of Social Work)
e-mail: ANDREW.paul@eyeless.org.uk
Web: http://www.eyeless.org.uk

The Trust is a National Registered Charity No. 1028896, established in 1993. It offers counselling, support, advice and assessment of needs by qualified medical social workers. It makes grants where there is no statutory provision to cover the costs of hospital attendance, holidays for the family, children's clothing, specialised educational equipment, short breaks and respite care toiled to the needs of the family. In 2008 The Trust will be running a residential workshop for teenagers aged 16 and above to increase skills and develop independence. It has information available, details on request and is associated with a genetic research project being undertaken by Moorfields Eye Hospital. The Trust helps over 500 children with anophthalmia, many of whom have multiple disabilities.

Group details last updated November 2007.