Anophthalmia is rare, but the exact incidence is unknown. One report from a prospective study of 50,000 newborns found an incidence of microphthalmia of 0.22 per 1,000 live births. In a recent study in England, the prevalence of anophthalmia and microphthalmia was 1.0 per 10,000 births.
Anophthalmia can be congenital (present at birth) or acquired later in life. Congenital anophthalmia can occur alone or along with other birth defects. Anophthalmia may result from inherited genetic mutations, sporadic genetic mutations, chromosome abnormalities, prenatal environmental insult or other unknown factors.
Many health care providers should be involved in the care of an infant who has A/M and his/her family. They are needed to help the baby and the family meet challenges related to A/M and to live as healthy a life as possible.
A newborn with A/M should be examined immediately by an ophthalmologist (a physician who specializes in problems related to eyes), and an ocularist. If an eye is missing or is too small, the face cannot grow properly. Rapid growth of the face occurs in the newborn and young child, so care should not be delayed. An oculoplastic surgeon will often be a part of the baby's care team and will perform necessary surgical procedures.
A geneticist ( a physician who is an expert in genetic conditions) and a gentetic counselor (a medical professional who specializes in support and information sharing) can help the family to coordinate special care and early interventions for the child. The genetics team will also discuss the possibility of having another child affected with A/M in the future. They will also offer ongoing support. Genetic tests may help to make a diagnosis, but a normal chromosome test does not rule out a genetic cause for A/M. The normal chromosome test means only that the cause is unknown at that time. The geneticist should see the child again at a future date, when new information may help to make a diagnosis.
Vision helps infants to learn and to develop. Children who are blind in one or both eyes need special interventions to help them in a sighted world. Early intervention services, including Orientation and Mobility (O&M) training should be an essential part of the care of an infant who has A/M. As they learn about the care of their infant, parents and family members also need to learn about services which are availabe and to receive the kind of support ehich will help them in parenting a child with special needs.
About the Ocularist
by Carol Toussie-Weingarten, RN,PhD
Who is an ocularist?
An ocularist is a health professional who specializes in prosthetic devices for the eye. This specialty combines an understanding of color and artistry with expertise in the science of the development and function of the face and eye.
Why should treatment begin so soon after the baby's birth?
Growth and development of the face is usually dependent upon the presence of an average-sized eye within the orbit. Facial development occurs very rapidly in an infant and young child. Doctors believe that about 90% of orbital growth is complete by 5 years of age. If the orbit is empty, it will not grow properly. In turn, the child's face will not grow properly and this may lead to changes in the child's facial appearance. Thus, it is important that therapy begin very soon after birth.
What will happen at the first visit with the ocularist?
Your first visit will begin as a conversation between you and the ocularist about your baby's medical history. The ocularist will next observe the baby for a short while. he will then examine the baby's face and eye socket, using only his hands to separate the eyelids. During this examination, the ocularist will explain what he is doing at all times.
Therapy often begins at the first session. The ocluarist may decide to use one of two basic approaches toward treatment. The most common approach involves the insertion of a premade conformer, which helps to support the growth of the eye socket and the bones of the face. The conformer is used to expand the orbit and the opening of the eyelid. A conformer is a tiny plasic device which looks like a ball with a stem. This stem makes it easier to remove the conformer when removal is necessary. The premade conformer is selected to fit the general size and shape of the baby's orbits. A different approach uses a soft wax material to fashion a custom-molded conformer, which is shaped exactly like the baby's orbit.
In certain cases , the ocularist will perform a special examination under general anesthesia in an operating room. At this time, the ocularist would take impressions of the eye sockets in order to create custom-made prosthetic devices. The ocularist will determine which of these approaches is best for the baby's individual needs.
How will the baby react to the ocularist?
The baby will need to be held still during the ocularist's examination and the fitting of the conformers. During the examination, the ocularist will touch the baby's face and head and will separate the baby's eyelids. Although anophthalmic sockets are not usually sources of great pain, the examination may still be disturbing to a newborn who can not understand what is happening to him. The baby can be expected to cry and resist the examination, even with the most gentle approach.
Can a prosthetic device help the baby to see?
No. Prosthetic devices are very important because they help the baby's face to grow and develop. However, with the present state of science, no devices are available which will allow children who have anophthalmia to see.
Are conformers uncomfortable for the baby to wear?
Although it will take time for the baby to get used to wearing conformers, they should not cause pain for the baby. If the eye appears red, weepy, or the baby indicates pain by frequently rubbing or pulling at the eye, contact your ocularist immediately. Do not remove the conformer without the knowledge of your ocularist or physician.
What if the baby removes the conformer?
Older infants and toddlers may remove their prostheses/conformer as part of personal exploration and play. To replace the conformer, use the techniques the ocularist will teach. If you are unable to reinsert the conformer, contact the ocularist without delay. The socket will begin to shrink if the conformer is not in place.
Will the ocularist give the baby a prosthetic "eye" at the first visit?
No. Many anophthalmic babies will require treatment with a conformer to prepare the orbit before a "permanent" prosthesis, which resembles an eye, can be used.
Which questions should be asked during a visit with the ocularist?
At the conclusion of your visit, you should have the following information:
You will probably add many other personal questions to this list Do not be afraid to ask questions of your health care providers. They are available for help. In the case of anophthalmia treatment, knowledge can be very helpful. Try to identify and write down your questions and bring them to your visits.
Will the baby have to return to the ocluarist?
Yes. Anophthalmia is a condition which requires visits to the ocularist throughout life. During the baby's first year of life, many ocular devices will be needed as the baby grows and as changes take place within the socket. The baby may need weekly, bi-weekly, or monthly visits to the ocularist for the first year. As the baby gets older, fewer visits are needed. The actual number of visits will depend upon the baby's individual needs.
Who pays for treatment by the ocularist?
Many commercial insurance policies, HMO insurance policies, and medical assistance plans pay for both the visit to the ocularist and the conformers. The insurance company may request a letter from the baby's eye doctor and ocularist which explains the baby's individual needs. You should discuss payment concerns with the ocularist's billing manager at the time when the appointment is made.
Will the baby have to see an eye doctor as well as an ocularist?
Yes. The eye doctor will also prescribe care for the baby. The ophthalmologist and the ocularist will consult with each other to create the complete plan which will provide the best care for the baby. This plan will allow the ocularist to develop the prosthetic devices which best meet the baby's needs.
What long tem results should be expected?
Eye prostheses and appropriate surgeries are expected to enhance the child's appeareance. As each child is different, the actual results of these procedures will vary. Even though the child will look somewhat different from sighted children, well-groomed and well cared-for children with ocular prostheses can look terrific!
Are the prostheses and therapy programs the same for all children with anophthalmia?
Not necessarily, Each child with anophthalmia has uniquely formed sockets, eyelids, and facial structure. Therapy is uniquely designed to meet each child's speciaal needs, While it is helpful to draw upon the experiences of others, it is also imprtant to realize that each child's therapy and outcome will probably be different.
Do children do well with ocular prostheses?
Most children learn to do very well with their prostheses. Time, patience, and a sense of humor are needed to help the children to adjust to the prosthses. During infancy, a responsible adult is needed to care for the eye prostheses. As the child grows, he can learn to take very good care of his own prostheses. Eye prostheses can become one routine aspect of successful daily living for people with anophthalmia.
Is it normal to feel worried about the first visit to the ocularist?
Yes. Most people have had no experience with anophthtalmia or the speciality which deals with ocular devices. It is important to share these concerns with the ocularist. The International Children's Anophthalmia Network (ican) is a support group for family members and friends of persons with anophthalmia. This group of healthcare professional and family members of children with anophthalmia can be contacted for support, information, or education through their hotline at 1-800-580-ican (4226) or their Internet Web Page at www.ioi.com/ican
Will a person who feels "squeamish" about eyes be able to handle the treatments?
Yes. Over time and through necessity, everyone can learn to care for the baby's eye prostheses and needs. Concerns and feelings should be discussed with the baby's ocularist, who is used to dealing with concerns about these very important topics.
The eye is affected in about one-quarter of all inherited diseases, thus possible genetic causes of eye malformations must be considered. Congenital A/M can occur alone or with other birth differences. Geneticists use unusua findings in th eye, as well as other findings throughout the body, to help identify possible syndromes or causes of the disorder in an individual.
A/M has many different potential causes, including genetic conditions such as chromosomal disorders as well as single gene disorders.
Chromosomes are tiny structures which carry our genetic information and are arranged in 23 pairs in each cell of the body. One chromosome of each pair comes from the mother and the other from the father, Each chromosome consists of thousands of genes which are made up of DNA. The DNA is the genetic "alphabet" consisting of four letters: A, C, T and G. These letters create a series of three-letter "words" that combine and make up genes. Each gene has a specific function to encode the directions for the production of proteins in our bodies. Proteins are elements which do the different jobs our bodies require. A change in any of these "words" is known as a mutation. A mutation can lead to either abnormally made proteins or absence of the protein which then afffects the development of the fetus during pregnancy.
Single gene disorders occur as a result of a mutation in one gene on one or both of the chromosomes of a pair. This mutation changes the genetic information and therefore the blueprint for development, which leads to disease or birth defects.
Chromosomal disorders involve extra, or missing chromosomes or rearranged pieces of chromosomes. This extra or missing information changes the blueprint for development. Because each chromosome houses thousands of genes, a normal chromosome result can not tell us if all the genes are working properly. It simply tells us there are no large pieces of chromosomes which are extra, missing or rearranged.
Sometimes, we can not identify a sndrome in an individual to help explain the cause of A/M. Researchers are currently working on locating the gene or genes involved in normal eye development which may lead to many answers about anophthalmia and enable geneticists to provide more accurate counseling and recurrence risks.
American Society of Ocularists (ASO):
National Society of Genetic Counselors (NSGC):
American College of Medical Genetics (ACMG):
International Children's Anophthalmia Network (ican):
at Albert Einstein Medical Center, Philadelphia, PA:
The registry is compiling information on pregnancy, maternal medical and family histories, as well as environmental exposures. The goal is to determine a more accurate incidence of A/M and to better identify possible causes of A/M.
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