Raising awareness of Coloboma during the 2021 MACS Awareness Week
Coloboma refers to a gap in the structure of the eye. It can affect one (unilateral) or both (bilateral) eyes and occur alongside other MAC conditions. It affects 1 in 5,000 people.
MACS Awareness Week - Coloboma
About Coloboma
Philippa Harding and Jonathan Eintracht, PhD students, UCL Institute of Ophthalmology,
studying MACS conditions.
Video transcript
How does Coloboma form
We see the first signs of the developing eye at three weeks of pregnancy. By one month a cleft forms on the underside of the eyeball to allow blood vessels to grow into the eye and supply the nutrients. By day 35 this cleft fuses and the complete globe is formed. When the cleft fails to fuse, you can be left with a gap, that can extend from the coloured part of the eye, the iris, all the way to the back of the eye, involving the retina, which is the light sensitive layer. It can also just affect certain parts of the eye. So just the iris or the retina. This persistent structural gap is called an Ocular Coloboma and it is non-progressive. This means it will not change or degenerate over time.
How prevalent is Coloboma
It is a rare condition occurring in one in 5,000 births. However, it can be found in the presence of other eye conditions such as Microphthalmia, a smaller underdeveloped eye, or, with another eye that has failed to fuse. Other parts of the body may not have developed correctly, and this is because the same gene working to control eye development also has the role in other organ development. So children must be seen by a paediatrician to ensure that they are fully assessed.
Causes of Coloboma
Although environmental causes in pregnancy such as infection, vitamin deficiency, or exposure to alcohol, are linked to Coloboma, it is most likely to be genetic just like Microphthalmia or Anophthalmia. This means that more research can be done to understand why changes to our DNA lead to these conditions.
Genetic testing for Coloboma
RNA sequencing is a technique which we can use to see all the genes which are switched on, and off, in the eye. Genetic changes in these genes may cause Coloboma. The more we can find out about how these genes work, the more we can understand MAC conditions. This helps us to support families, in clinical care, and providing family planning.
Support available
Receiving a diagnosis of Ocular Coloboma can be worrying. Please reach out to the MACS Charity, who can provide the support you require. If you need more information on the condition, the latest research and genetic eye disease specialists around the UK, then please refer to the Gene Vision website at www.gene.vision. We would be more than happy to see you at Moorfields Eye Hospital.
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Learn More
Learn more about Coloboma
To learn more, visit About the MAC conditions page. You can also visit the Gene.Vision resource, with information for the affected individuals and health professionals alike.
Support MACS Awareness Week
Support the 2021 MACS Awareness Week campaign
This year, the MACS Awareness Week sees the launch of our fundraising campaign - Local Social Groups - Help Us Help More People.
The MACS Local Social Groups are a network of peer support allowing MACS families to connect with their peers in their local area. By supporting the campaign you are helping more children, parents and adults with MAC conditions receive support from their peers.
Local Social Groups - Help us Help More People
You can also support the campaign by interacting with our social media posts this week, or, if you are a MACS member, expressing interest in getting involved in your Local Social Group, or start one yourself!
If you have a MAC condition but are not yet a Member of MACS, you can find more information on joining here.
Any other enquiries can be sent to enquieries@macs.org.uk.