Born Without Eyes: Anophthalmia, with Inspiring Videos

A baby born without eyes

Anophthalmia, also called anophthalmos, literally means “without eyes.” It’s a rare condition in which the individual is completely lacking any ocular tissue. Sometimes only one eye is missing, but more often, neither eye is present at birth. According to a study conducted in England, 1 out of every 10,000 babies is born with the condition. Anophthalmia is so rare that when a baby is born without eyes, the story usually appears in the news.

Anophthalmia might be the only congenital deformity the child has, or it could be part of multiple congenital malformation syndrome, where several malformations are present. These include the rubella syndrome and the triploidy syndrome, where the individual possesses 69 chromosomes instead of the normal 46. Patau syndrome might also include anophthalmia. This is when there’s an extra chromosome 13. The Wolf-Hirschorn syndrome can cause anophthalmia, also. This condition occurs when part of chromosome 4 is missing.

There are three classifications of anophthalmia: primary anphthalmia, secondary anophthalmia, and degenerative anophthalmia.

In primary anophthalmia, the part of the brain that forms ocular tissue fails to ever begin the process, so there is no trace of ocular tissue.

With secondary anophthalmia, the eye begins to develop normally, but then stops developing. It never reaches normal size or normal function.

In degenerative anophthalmia, the eye develops normally at first, but before the process is complete, the ocular tissue disintegrates.

 

Causes of anophthalmia

 Doctors aren’t sure what causes all cases of anophthalmia. The eye is formed completely in the first three months of pregnancy. For some reason, with anophthalmia, the eye never begins to form, or either it begins forming but never completely forms. The condition isn’t hereditary, according to some doctors. Others believe it’s an inherited genetic mutation, which is discussed above. In a few cases, an abnormal chromosome has been identified, and in the case of degenerative anophthalmia, insufficient blood supply to the ocular tissue in utero has been cited as the cause. Other causes might include the mother’s being exposed to certain infections or medications during pregnancy, though some experts strongly disagree with this theory.

Parents who have had a child born with anophthalmia are urged to seek genetic counseling. Some studies suggest that they have an increased chance of having another child with the condition. According to some experts, the chances could be as great as one in eight for the parents to have another baby with anophthalmia.

Treatment of anophthalmia

 Sadly, nothing can be done to restore vision to a baby with no eyes. Even so, the infant must undergo surgery in order to avoid facial deformity. The eye sockets and the surrounding bones must grow along with the rest of the face in order for the face to appear “normal.” For this to be accomplished in the absence of ocular tissue, a plastic shell called a “conformer” must be placed into the eye socket. When can the conformer be inserted? It depends on the individual infant. Each case is unique.

In a baby, the conformer must be expanded every month or so in order to keep pace with the rest of the facial bones. Later, a prosthetic eye is placed into the socket. It must be checked about every four months for size, scratches, and sharp edges. The eye also has to be polished periodically to ensure that’s it’s smooth and comfortable.

By the time the child reaches the age of eleven or twelve, the prosthetic eye will need to be checked every three or four years. Periodically, new prosthetic devices will have to be made and inserted. Most children with anophthalmia who have received good prosthetic care will appear normal. Their faces develop symmetrically and normally.

Children with anophthalmia have an increased risk for learning difficulties. Parents must be especially observant of the child’s progress and seek help if the child does not seem to be progressing normally.

What if only one eye is affected?

 

Even when only one eye seems to have been affected by anophthalmia, it’s extremely important to have the eye checked regularly. It might appear normal when the child is very young, when in fact, it could be smaller than normal. The retina might not be fully developed, which could cause limited vision. The eye might also be susceptible to cataracts and glaucoma.

Related condition: microphthalmia

 

If a small portion of ocular tissue is left, the condition is called microphthalmia. In this case, the individual might retain some vision, especially of light and shapes.

A child with microphthalmia will need a conformer and a prosthetic eye in the empty socket so that the face will grow and develop symmetrically.

Help for parents

 

If you have a child with anophthalmia or microphthalmia, there is help available. These include highly specialized ophthalmologists and counselors. There are also several organizations and foundations that can offer information, support, and tips in coping with the demands of the conditions.

One of the most helpful is the International Children’s Anophthalmia and Microphthalmia Network, also known as ICAN. They provide information on treatment, diagnosis, and genetics, along with regular newsletters to inform parents about the latest information about anophthalmia and microphthalmia. There’s also a forum available for parents to converse with each other and share tips and experiences.

ICAN will also help parents locate specialists in their region, state, or country.

Baby born with no eyes: Anophthalmia

An amazing story!

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Comments 18 comments

Ann Nonymous profile image

Ann Nonymous 6 years ago from Virginia

Vivid, scary and so thankful I have two seeing eyes. I had never known the term for this disease although I have heard a little of it while flipping through channels, but could not stand to see much of due to my stomach. Thanks for another educational hub, habee!


prettydarkhorse profile image

prettydarkhorse 6 years ago from US

ICAN, I am glad there is help out there, must be devastating for parents, Thanks for a nice discussion of a rare deformity habee, Maita


patspnn 6 years ago from NYC

Great Hub. Never knew the details of the situation-glad there is a network out there to help


habee profile image

habee 6 years ago from Georgia Author

You're welcome, Ann. I am so thankful that all my children and grandchildren have sight!


habee profile image

habee 6 years ago from Georgia Author

Maita, I can't imagine what these children and their parents go through!


nancy_30 profile image

nancy_30 6 years ago from Georgia

I have never heard of this before. Thank you for another interesting article.


Veronica Allen profile image

Veronica Allen 6 years ago from Georgia

This was my first time hearing of this condition. Thanks for sharing this with us, and in such great detail. What an inspiring video. It helps you see that if you have the determination, you can achieve just about anything, even when it seems as if it's physcially impossible. I appreciated too, that he relied so much on his faith to sustain him even during really tough times.


habee profile image

habee 6 years ago from Georgia Author

Pat, thanks. I just read one of your great hubs!


habee profile image

habee 6 years ago from Georgia Author

Thank you, Nancy - for reading and commenting!


habee profile image

habee 6 years ago from Georgia Author

Veronica, that young man inspired me sooo much! And to think how much we gripe about little aches and pains makes me feel guilty!


terrioneill profile image

terrioneill 6 years ago

My daughter has this condition and the estimated cases is 1 in 100,000, not 1 in 10,000. I'm not sure about the statement that children with anopthalmia are more likely to have learning disabilities - on a support group I belong to, there are many many "typical" children who just can't see. Our kids are born w/out sight, it's normal for them and although those of us who are sighted might think it horrible to be blind; blind is their normal and they are happy kids. Thanks for your time in researching and writing some information regarding this very rare disorder.


habee profile image

habee 6 years ago from Georgia Author

Terri, I got the statistics from the International Anophthalmia organization.

I'm so glad to hear that your daughter is a happy, well adjusted child! God bless!


mao 6 years ago

i have a friend who has baby has this anophthalmia doesn't have eyes so sad for them


habee profile image

habee 6 years ago from Georgia Author

Oh, Mao, that is tragic.


dr asma haider 5 years ago

hi,its really a very helpful site for those who are going through this.i really appetriciate your effort.my uncle has two children one boy n one girl.Both have anophthalmia.can u guide if the couple should plan their third baby or not?


habee profile image

habee 5 years ago from Georgia Author

I'm not a doctor, but I think genetic counseling would be in order.


marie 4 years ago

i have a boy 5 years old and he is a happy boy most of the time.i get sad when i hear stuff like poor children and parents,we live a normal family life and im soo happy for my boy and he is a gift for me,though its hard work sometimes.but im not make it a bigger deal than it is or make it a bigger problem than it is,almost everything are possible for my boy,he have not so many limits.i want him to do the most of the things that other kids can do.


jessica 4 years ago

I as a parent find this information very useful my youngest son was born without 1 eye and the 1 he does have is smaller than what its suppose to be I blame myself at times cause he was born like that at times I get depressed cause I am a young mother of 23 years old and have 5 kids and seeing my son born like that makes me very sad cause I don't know how his life is going to be or anything and I wish I could just give him his site and a normal life I wish I had more information and people to talk to with similar situation because I feel lost and confused

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