The earlier, the better ～Pediatric ophthalmology treatments under 1 year old: strabismus, glaucoma, cataracts and other rare ophthalmological diseases

This article was supervised by Dr. NISHINA Sachiko, M.D., Ph.D, Head, Division of Ophthalmology, National Center for Child Health and Development(NCCHD)

Tests and surgeries during the period under 1 year of age

EAJ: Some mothers may think, “Since my baby is still small, it should be better to wait until he/she gets a little older before treatment,” but why do you recommend early treatment?

Dr. NISHINA: In ophthalmology, the more serious the disease, the more likely it is to appear under 1 year of age. Therefore, the ideal is to detect the disease during the period under 1 year of age and to treat it as early as possible. The sooner treatment is received, the better the prognosis.

Comprehensive capabilities of the hospital that support the treatment of children under 1 year of age

EAJ: Even though early treatment is recommended, can a baby under 1 year of age tolerate eye exams and treatments?

Dr. NISHINA: National Center for Child Health and Development (NCCHD) has all medical departments related to children, and anesthesiologists who are experts in pediatrics are always on site, making it possible to perform examinations under general anesthesia at any time.

There are some diseases that may be too late if not diagnosed quickly and given appropriate treatment and care, such as glaucoma, retinal dystrophy, and the possibility of retinal detachment due to vascular proliferative lesions. We perform thorough examinations under general anesthesia, keeping in mind the possibility of any disease. We believe that it is our mission as a hospital every day to treat very small children, for whom anesthesia would be difficult in a general hospital.

Congenital cataract

For example, in the case of congenital cataracts, if both eyes have strong cataracts at the moment of birth, surgery within 12 weeks (2-3 months after birth) is said to develop good vision. If one eye has a cataract, it is said that it is best to operate earlier, by 6 weeks of age, because only the better eye will be used and the vision in the other eye will not develop.

A pediatrician may find congenital cataracts during a checkup, or a parent may find that their child has white eyes and come to see the doctor, which may lead to treatment. As for the general treatment schedule, we will consult with the parents in advance and exchange data, and once they decide to come to Japan for treatment, the hospitalization period will generally be about 1 to 2 weeks. After that, the baby will be examined once every 2 weeks, 1 month, 2 months, 3 months, 6 months, and every 6 months after discharge.

Congenital glaucoma

70% of baby with congenital glaucoma develop before 1 year of age, but we recommend that your baby come in for treatment within a week of the onset of the disease. Congenital glaucoma always requires surgical treatment. If a baby has other types of glaucoma and can lower his/her intraocular pressure with eye drops, the baby may have enough period of time, but if eye drops are no longer effective, the baby will need to undergo treatment within 2 to 3 weeks.

Trabeculotomy is the most effective surgery for congenital glaucoma, so if it is detected early, good vision can be achieved. However, in cases of aniridia, glaucoma associated with anterior segment abnormalities, congenital cataracts, and postoperative glaucoma with retinopathy of prematurity, trabeculotomy is less effective and the following surgical method is required.

Filtration surgery is difficult to manage post-operatively in the case of children and is prone to complications, so we avoid it as much as possible, and instead perform microshunt surgery. Ciliary body laser coagulation is a possible treatment for glaucoma, which is prone to complications, and although it often lasts about a year after treatment, it must be performed regularly.

We do not remove the bad part in one surgery, but we check to see if the intraocular pressure is maintained at a normal level, if the damage to the optic nerve has progressed, and if another surgery is necessary. Postoperative follow-up is very important, and just like with surgery, the experience of the doctor is tested. We believe that intraocular pressure testing, which is important for postoperative management, can be performed at general clinics after the age of 3, but there may not yet be many clinics that can perform this during infancy. The general treatment schedule is almost the same as for cataracts above.

Strabismus

Binocular vision, which allows children to see things three-dimensionally with both eyes, is greatly involved in children’s visual skills, such as fine manual labor, reading and writing, learning ball games, and their mental and physical development. If there is an abnormality such as that binocular gaze does not match, the patient will not be able to acquire binocular vision unless it is treated as early as possible.。

Infantile esotropia, which occurs during the first six months after birth, is the most difficult type to acquire binocular vision. Generally, strabismus surgery is required to relocate the extraocular muscles around the eyes. Surgery is performed before the child is about 1 year old to straighten the eyes and develop binocular vision. Very early surgery for stereoscopic vision is also recommended, and if a baby comes before 6 months of age, surgery can be performed by 8 months of age.

For treatment, we first perform a strabismus test that matches the child’s growth to make an accurate diagnosis. From a long- and medium-term perspective, we use less invasive surgical methods for children, in other words, we anticipate changes due to post-operative growth (eyes moving toward the center, drifting to the outside, etc.), and consider the possibility of repeat surgery in the future.

When it comes to strabismus, there are various types. We can treat all types of strabismus, from common ones such as intermittent exotropia, esotropia, and superior oblique muscle palsy, to special ones such as Duane syndrome, extraocular muscle fibrosis, and congenital oculomotor nerve palsy. However, Botox treatment (possible in Europe) is not approved for children under 12 years of age in Japan or the United States, so it cannot be done.

During infancy, if strabismus persists for more than 3 months, the prognosis for binocular vision worsens. If a child is under 1 year of age or 1 year old, treatment should begin within 3 months when diagnosed with strabismus. If it’s 2 years old, it is alright to begin treatment within half a year. Although it is not the matter to be accomplished within a day, we recommend the parents of a baby to come as soon as possible. The general treatment schedule is that after consultation and data exchange, once the parents decide to come to Japan for treatment, the hospitalization period (including examinations) is approximately 4 nights and 5 days. First, we will conduct a thorough examination over the next two days after a baby patient is admitted to the hospital, and then we will decide on the surgical method. After being discharged from the hospital, we check to see if the patient is stable in the first week and month, and follow up six months, one year, two years, and three years later. In cases of strabismus, the prognosis is generally good and there are almost no complications or problems.

Other diseases

Children have diseases such as familial exudative vitreoretinopathy (FEVR), ataxia pigmentosa, and Coats disease, in which blood vessels in the retina proliferate, rapidly progressing to retinal detachment and blindness. We have a lot of experience in treatments such as performing general anesthesia, carefully examining the condition of the blood vessels in the retina, and performing laser photocoagulation or cryocoagulation. As for retinopathy of prematurity, there are fewer cases of surgery now available than in the past, as a method of treating the aforementioned diseases with anti-VGF drugs has become available.

Prognosis changes significantly with follow-up after treatment

EAJ: A patient said, “There are many places around the world where high-quality surgery can be performed, but treatment in Japan is the best in terms of detailed postoperative management.” In ophthalmological treatment, it seems that the degree of vision improvement varies depending on postoperative management, amblyopia training, and low vision care.

Dr. NISHINA: In the case of children, both physically and mentally, they are still growing, so I think that caring for their growth is the top priority of any clinical department. In particular, unlike ears, eyes do not function at all immediately after birth, but they grow rapidly after birth. The developing eye is highly sensitive to irritation and is easily damaged by disease, but with early treatment and training care, it can improve more than expected.

Post-operatively, we will use vision assessment methods tailored to each child to provide training and care to maximize visual acuity and develop stereoscopic/binocular vision. Also, there are any signs of abnormalities, such as the possibility of complications such as glaucoma, we immediately conduct a thorough examination and follow up immediately without overlooking even the slightest change.

Even if it is an intractable disease that cannot be fundamentally treated with current medicine, we can perform detailed examinations and accurate diagnosis at an early stage to explain the family so that they can understand as to whether the disease will progress or not, how much it is currently visible, and how it will change in the future. By doing this, a patient and those around the patient can prepare mentally, cover the patient’s weaknesses and develop the patient’s strengths, and ask schools and society for reasonable accommodations.

In Japan, there is an occupation called an orthoptist who has a national qualification. In particular, NCCHD employs orthoptists specializing in children, who provide highly accurate and detailed pre- and post-operative management, training, and care, including how to choose appropriate glasses, and our orthoptists provide a variety of advice, including effective home training methods, how to use visual aids, and creating an environment that is easy to see. This is very important because visual acuity will improve depending on training, and prognosis will change considerably. Since a child’s eyesight does not change much after the age of 6, we try to complete such training before starting school. Children’s brains are still developing, so if we provide them with the information they need at the right time, they will develop well. If we miss that timing, it will be very difficult to improve later. Timing is of utmost importance. We can provide basic advice on amblyopia training and low vision care within a 2-3 days hospitalization after the examination.

Comprehensive support for complications

EAJ: Are there any other strengths that are unique to NCCHD as a children’s general hospital?

Dr. NISHINA: Even if a child has complications, doctors from each department can work together to provide treatment.

For example, cataracts are most often genetic, but they can also be a symptom of a systemic disease, such as rubella or Down syndrome. In such cases, the parents of pediatric patient may consult with the relevant department depending on your symptoms, as to what about not only the eyes but also the ears and/or how is general condition. I think this is one of the strengths of NCCHD, which has all the departments of a children’s hospital.

In addition, for example, patients who develop glaucoma due to congenital aniridia often require surgical treatment, but in the case of aniridia, they may also be susceptible to tumors called WARG syndrome. Therefore, it is important to have an abdominal echocardiogram performed at a pediatrician’s office, and to have genetics examine the patient to see if there are any major gene defects.

A patient, who has Axenfeld-Rieger syndrome, also suffers from heart disease. Normally, heart surgery would be performed first, but because the patient developed glaucoma due to anterior segment dysplasia, the glaucoma surgery was performed first and then immediately thereafter the patient also underwent heart surgery. I believe that because we have treated many incurable diseases, we are able to treat patients carefully without ruling out the possibility of various diseases.

Prospects for genetic testing and treatment

EAJ: Please tell us about genetic outpatient treatment.

Dr. NISHINA: Now more and more diseases can be detected for genetically in ophthalmology. Leber congenital blindness and retinoblastoma are the diseases we are particularly focused on. In the future, we would like to focus on gene therapy.

Leber congenital blindness is a severe form of retinitis pigmentosa that occurs early after birth and is a major cause of visual impairment in children. It is a disease in which the function of photoreceptor cells is impaired, and gene therapy has only just begun for a small number of genetic mutations.

Adults with retinitis pigmentosa often becomes aware of the disease themselves through symptoms such as difficulty with dark or bright places. In Leber congenital blindness cases in babies, parents come to the clinic after becoming aware that their baby is not looking at them, has shaky eyes, glares, pushes around the eye lids, or has a poor response to looking.

It takes one night and two days to perform detailed examinations such as electroretinograms and imaging tests to examine the function and morphology of the retina and make a diagnosis. The examinations can be performed without anesthesia for older children, but for infants and young children, all tests are performed under general anesthesia. Currently, when genetic testing is performed, the causative gene can be identified in about 40% of cases. If we detect the causative gene, we can provide the information about clinical trials, and if the gene is carried by many people, we can present the clinical picture to date. Since Leber’s congenital blindness is usually an autosomal recessive (recessive) gene, there are many cases where the father and mother are carriers of the disease, so we offer consultation on the genetic and its recurrence rate.

Retinoblastoma (a cancer of the retina, which occurs in about 70 people a year in Japan, and about 10 of them are treated at NCCHD) is also a disease related to the tumor suppressor gene RB1. The RB1 gene screening test can be provided as a clinical test with guaranteed accuracy. For hereditary patients who are born with a change in the RB1 gene, health management is important because they are prone to developing other cancers. If it is hereditary, there is a 50% chance that it will be passed from parent to child. For this reason, it is important to have a fundus examination at an ophthalmologist as soon as your child is born, and be prepared to begin treatment immediately if symptoms develop. If detected early, there is a greater chance of preserving the eye and achieving good vision.

Message to patients

EAJ: Lastly, please give a message to patients and their families.

Dr. NISHINA: It may be difficult to find a treatment provider, especially if your baby is still very young, but it is extremely important to start treatment early, so please do not hesitate to contact us. In addition, even if your child has a chronic disease that requires treatment at an ophthalmologist, or if your child has diseases that spans multiple departments, NCCHD has all the departments related to children, so we can provide daily treatment in cooperation with each department. We would like to ask you to consult with us in advance.