Uveitis Eye Inflammation Causes, Symptoms & Treatment

What Is Coloboma? All About Madeleine McCann's Rare Eye Condition

What Is the Rare Eye Condition Coloboma?Klaus Vedfelt - Getty Images

A young woman in Poland is getting attention after speaking out on Instagram with claims that she may be Madeline McCann, the British toddler who has been missing since 2007.

McCann, in case you're not familiar with her story, disappeared while her family was vacationing at a resort in Portugal. Now, 21-year-old Julia Faustyna says she believes she may be McCann, noting that the two share physical similarities, including a coloboma in their right irises.

"I have similar eyes, shape of face, ears, lips," Faustyna wrote in one Instagram post. In another, she said that their coloboma is "exactly the same."

Faustyna's posts have gone viral, and also raised a lot of questions about what, exactly, coloboma is. Here's what you need to know.

What is coloboma?

Coloboma is a condition where normal tissue in or around the eye is missing at birth, according to the American Academy of Ophthalmology (AAO). "It's a developmental abnormality where some part of the eye—and it can be any part of the eye—doesn't form properly," says Sean P. Donahue, M.D., Ph.D., professor and chief of pediatric ophthalmology at Vanderbilt Children's Hospital.

Colobomas can form in several parts of the eye. Those include, per the National Eye Institute (NEI), colobomas of the:

Iris (the colored part of the eye)

Uvea (layer of the eye that contains the iris)

Lens (the clear inner part of the eye that helps the eye focus)

Retina (the light-sensitive tissue lining the back of the eye)

Macula (the part of the retina needed for central vision)

Optic nerve (the nerve that connects the eye to the brain)

A person can have coloboma in one or both eyes, and they may impact vision, depending on where they're located, the U.S. National Library of Medicine says. "It's like a cleft lip, except around the eye," says Gil Binenbaum, M.D., chief of ophthalmology at Children's Hospital of Philadelphia.

Colobomas are rare—they happen in about one in every 10,000 people, the U.S. National Library of Medicine says. Some are visible, while others are not. Colobomas in the iris can make a keyhole or teardrop shape, the NEI points out.

What causes coloboma?

Coloboma is something that happens before a baby is born. The eye develops in utero during the first three months of pregnancy, and a gap called the choroidal fissure appears at the bottom of the stalks that eventually form the eye, the AAO explains. This fissure usually closes by the seventh week of pregnancy. But, if it doesn't, coloboma can form.

Coloboma can be caused by changes in genes involved in the early development of the eye, along with environmental factors like exposure to alcohol during pregnancy, the U.S. National Library of Medicine says. It's also often linked to other health conditions like CHARGE syndrome and Wolf-Hirschhorn syndrome, the NEI says. While coloboma is usually not inherited, it can be passed down in families.

What does a person with coloboma see?

It depends on the location of the coloboma, Dr. Donahue. If coloboma is in the iris, it usually doesn't impact vision, the U.S. National Library of Medicine says. But Dr. Donahue says that's not always the case. "If it's only of the iris, it shouldn't impact vision significantly," he says. "However, sometimes coloboma of the iris affects how the image gets to the back of the eye, and the brain can start to turn the eye off. It can be associated with a decrease in vision." Still, "many people with a coloboma—if it's just in the iris—are capable of 20/20 vision," Dr. Donahue says.

But colobomas in the retina can cause vision loss, as well as low vision (which is when vision loss can't be corrected with glasses or contacts), nearsightedness, involuntary back and forth eye movements, or separation of the retina from the back of the eye, the U.S. National Library of Medicine says.

"If it is severe enough to affect vision, then it could have a profound impact," says Aaron Zimmerman, O.D., a professor of clinical optometry at The Ohio State University. "If it does not affect the central vision, then it often is not super debilitating."

How is coloboma treated? Can coloboma be cured?

There is no cure for coloboma. "You cannot replace that part of the eye," Dr. Donahue says. "You can maximize vision, but you can't cure it." However, there are treatments that can help if the condition impacts a person's vision, the NEI says. Those include:

Glasses or contacts to help with vision issues

Colored contact lenses to make the iris appear more round

Surgery to make the pupils appear more round

Low vision aids like telescopic glasses or lenses that filter light

An eye patch or eye drops (in young children)

"If there's a coloboma of the eyelid, you can have surgery to repair that," Dr. Binenbaum says. Ultimately, though, "there is not much that can be done," Dr. Zimmerman says.

If your child has coloboma, Dr. Donahue recommends seeing their pediatrician. (Although he points out that this should be picked up during your child's original neonatal screening.) The pediatrician can determine from there what type of coloboma your child has and whether they need to see a specialist.

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Researchers Identify Gene Mutation That Can Cause Key-hole Shape Defect In Eye

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A scientific collaboration between researchers from The University of Manchester at the Manchester Centre for Genomic Medicine (MCGM), and the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.

The condition is known as inherited retinal dystrophy associated with ocular coloboma. 

Coloboma is one of a number of developmental genetic disorders that collectively represent important causes of visual disability affecting one in 4000 people in the western world.  Results of this study, which was funded in the UK by charities Fight for Sight and RP Fighting Blindness, could help scientists better understand the link between genetics and disease, and speed up the rate at which patients with this group of conditions are diagnosed. The work also provides fundamental insights into the earliest genes that are required to control the development of the eye.

This European research consortium identified a mutation in the miR-204 gene as being responsible for the condition, and the findings were published in thePNAS journal.

Patients with coloboma are born with a hole in one of the structures of their eye, such as the iris or retina, which fails to close up.  In this study, researchers investigated instances where the condition affected both eyes and was associated with progressive visual loss from a degeneration of the light sensitive cells of the eye, the photoreceptors.   

One of the two principal investigators, Professor Graeme Black, who is also Strategic Director at the MCGM and Consultant in Genetics and Ophthalmology said: "Around 200 genes have previously been linked to inherited developmental and degenerative genetic disorders.  For the first time, we've been able to demonstrate the importance of the miR-204 gene in the regulation of ocular development and maintenance, and of its contribution to eye disease.

"This discovery provides a clearer understanding of the control of early eye development as well and helping to improve diagnosis for patients with this condition and possibly other inherited eye disorders."

Dr Sandro Banfi, co-principal investigator of this work, who leads a research group at the Telethon Institute of Genetics and Medicine and is Professor of Medical Genetics at the Second University of Naples, said: "This is an extraordinary result that sheds further light on the role of microRNAs, very tiny genes that have been recently discovered, as primary causes of genetic diseases. This success would not have been possible without the collaboration between our two research groups.

"It's very exciting to see such progress being made in the project," commented Sue Drew, Engagement Manager at RP Fighting Blindness. "We're delighted to see scientific collaboration delivering real results for retinal dystrophy research which has increased understanding of genetic disease, and will aid diagnosis in the future. We anticipate further exciting developments being made and hope this project will show the huge benefits of collaborative research."

Founded by Central Manchester University Hospitals and The University of Manchester, MCGM is an integrated academic and clinical service department.  The Telethon Institute of Genetics and Medicine, founded by the Italian Telethon Foundation, is a research institute dedicated to the study of mechanisms underlying genetic diseases and to the development of strategies for prevention and treatment.

The study investigated the genetic cause of an autosomal dominant inherited condition of retinal dystrophy and bilateral coloboma, present in varying degrees in a large, five-generation family.

Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC. MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc Natl Acad Sci U S A. 2015 Jun 8. Pii: 201401464. [Epub ahead of print]

Media enquiries to:Jamie BrownMedia Relations OfficerThe University of ManchesterTel: 0161 2758383Email: jamie.Brown@manchester.Ac.Uk

For information on opportunities to undertake further study or research in this field, please visit the Faculty of Medical and Human Sciences website.

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