Dr. Kahana has a particular passion for oculoplastic conditions that affect children. Children are not “little adults,” and require a unique approach with specialized skills and tools. Dr. Kahana has extensive experience with pediatric oculoplastic disorders, a result of his deep interest in the topic and years of academic research on the developmental biology of the eye and associated structures. Dr. Kahana has authored numerous manuscripts on the topic of pediatric oculoplastic surgery, taught courses, developed novel techniques, and advanced the science of pediatric oculoplastic surgery.
The “critical period of visual development”
At birth, vision is not fully developed, and a newborn’s visual acuity is relatively poor. Children’s ability to see improves dramatically over the first 7 years of life, and particularly in the first 2-3 years – the “critical phase of visual development.”
Visual development is driven by brain development in the visual cortex and vision processing centers in the brain. Development of those parts of the brain required for good vision occurs with visual input from the child’s eyes. In Nobel Prize-winning work, Professors David Hubel and Torsten Wiesel of the Johns Hopkins University showed that brain development required visual input from the eyes (view video). If visual input was impaired, then the brain would not develop the ability to see well.
Importantly, there is a critical period of brain development in which the brain can develop the ability to see well. If the visual axis is covered during this time then the brain will never develop the ability to see well – even after the obstruction is removed. Hence, it is very important – even critical – to have a good assessment of visual function by a fellowship-trained pediatric ophthalmologist, and to take this issue into account when deciding on when to perform eyelid surgery.
Blepharophimosis
What is Blepharophimosis Syndrome?
Blepharophimosis, or BPES, is typically caused by a mutation in the gene FOXL2, however other genetic mutations are also known to be associated with this syndrome. FOXL2 is a gene that is expressed in several areas in the body, including the eyelids and ovaries. Those with the genetic mutation have a 50% chance of passing it on to their offspring. BPES does not impact intellectual development in any way. However, a negative impact on visual development can lead to vision disabilities.
Blepharophimosis presents at birth with:
- Horizontal narrowing of the eye opening (phimosis)
- Drooping of the upper eyelids (blepharoptosis)
- Upward folding of skin from the lower eyelid at the inner corner of the eye (epicanthus inversus)
- Outward shifting of the inner corners (canthi) of the eyes (telecanthus)
– Within these canthi are the tear ducts, which might be disfigured due to the telecanthus, causing excessive tearing because of defective drainage of tears - Downward shifting of the outer corners of the lower eyelids (euryblepharon)
All of these characteristics together result in an inability to properly open the eyes to clear the visual axis, and as a result may significantly impact vision – particularly during early childhood visual development.
Often, patients will demonstrate a significant “chin-up” position (also known as “ocular torticollis”) in order to see from under the eyelids – a situation that can place significant stress on the neck and back and can delay gross motor development in infants and toddlers.
There are two types of Blepharophimosis Syndrome:
- Type I is associated with early menopause along with the aforementioned eyelid characteristics above. This can lead to increased difficulty, or complete inability, to conceive children.
- Type II only includes the eyelid characteristics mentioned above.
The first and most important step is to have a complete eye exam performed by a fellowship-trained pediatric ophthalmologist. It is also critical to assess for common but unrelated vision issues, such as strabismus (eye misalignment) and refractive error (the need for glasses). The fact that a child has BPES should not distract from the need to take care of ANY and ALL vision-related issues that commonly arise in young children.
Girls with Blepharophimosis syndrome should be assessed by an endocrinologist and gynecologist for potential early menopause and fertility concerns.
It is very important to see a geneticist for genetic counseling, who can help discuss the risk of passing this on to future generations, along with assessing the risk for early menopause.
The primary goal of surgical repair is to facilitate normal development of the visual system and to avoid the consequences of neck strain caused by a “chin-up” position (ocular torticollis). If visual development is normal, then there is NO REASON to operate on a young child. The ONLY reason to operate on an infant or toddler, in whom surgery is more challenging, is to normalize visual development and/or correct the ocular torticollis. If surgery can be delayed until school age, then it should be delayed in order to optimize long-term results.
Surgery is performed in stages, starting either with the blepharoptosis (to raise the upper eyelid – ptosis correction) or with the epicanthus inversus and telecanthus (to reduce the inner skin folds – medial canthoplasty). The decision on which surgery to perform first is individualized and takes into account which part of the lid – upper and inner – might be obstructing vision.
The medial canthoplasty is performed by moving skin flaps to reorient the tissues such that the inner skin folds will be pulled inward. In addition, debulking of abnormal medial canthal fat pads is necessary to narrow the nasal bridge to a more anatomically correct position. Care must be taken to avoid injury to the tear drainage (lacrimal) system.
The blepharoptosis repair surgery aims to allow the upper eyelid to elevate better in order to clear the pupil without a chin lift. There are two methods to correct this, depending on the severity: ptosis repair for those children with good levator muscle function, or a frontalis sling with or without ptosis repair in those with poor levator function. A frontalis sling allows the child to raise their eyelid by activating their brow muscle. To connect the frontalis muscle to the eyelid, traditional surgery utilizes one of several methods: silicone tubing, Gortex suture, connective tissue from the thigh (fascia lata), or cadaveric connective tissue from a tissue bank. After many years of using silicone slings, Dr. Kahana has revised and improved on an old technique in which the frontalis muscle itself is tunneled under the brow and connected to the upper eyelid – forgoing the need for an implant. This technique is called a “frontalis muscle flap sling.” (Credit goes to Dr. Suzana Matayoshi, MD, PhD, Director of Oculoplastic Surgery at the University of Sao Paolo, Brazil, for introducing Dr. Kahana to this approach.)
After surgery, the eyelids will be more open, but they will not close as well when the patient is asleep – at least for the first 2-3 weeks. They will also not blink as well because the blinking mechanism is altered by the sling surgery and needs time to recover. Therefore, it is very important that the eyes are kept lubricated – particularly when sleeping. This is done by applying a small amount of eye lubricating ointment to the eyes whenever the child is asleep (including naps). Drying out of the eyes is the most important early complication to avoid – it can lead to corneal infection, scarring and loss of vision. In infants and pre-verbal toddlers, rubbing of the eyes is often a sign that the eyes are dry and uncomfortable. Fortunately, the issue is usually temporary and improves as the eyelids heal over a few weeks after surgery, although prolonged swelling is possible – particularly with traditional silicone or fascia lata slings.
As long as the eyelids are properly repaired in a timely fashion and there is appropriate follow-up, patients with blepharophimosis syndrome are expected to develop normal vision.
Dr. Kahana offers the following blepharophimosis surgeries:
- Upper Eyelid Blepharoplasty
- Brow Lift – Direct or Indirect Approach
- Ptosis Repair (Levator Muscle Repair) – Internal or External Approach
Bilateral upper eyelid external ptosis repair with frontalis muscle reanimation flap, with scar lysis and repair of upper eyelid cicatricial lagophthalmos with full thickness skin graft. Post op at 2.5 months.
These are before/after photos of a young boy with blepharophimosis syndrome. The severity of his ptosis threatened his visual development. He underwent ptosis repair surgery, including frontalis muscle flap reanimation and levator advancement, and now he can see. The results have been stable since 2019.
Congenital Ptosis
Correcting ptosis can be done at any age, but the only reason to perform surgery in a very young child is to avoid vision loss or developmental delay. Otherwise, the surgery can wait until the child is at school age.
Surgery to correct ptosis may involve tightening the weak levator muscle, removing congenitally thickened connective tissue from around the muscle, or bypassing the muscle and connecting the eyelid directly to the forehead muscle (“frontalis”) so that the eyelid opens when the brow is elevated. Each of these procedures can be performed via a variety of techniques. Dr. Kahana has experience with all modern techniques.
Whenever possible, he prefers to remove abnormal connective tissue and tighten the levator muscle in order to give it a chance to regain function. Approximately 50% of patients who are predicted to have minimal levator function end up having reasonable function following surgery.
Sometimes, when the levator muscle is particularly weak, Dr. Kahana will also perform a frontalis muscle reanimation technique, in which a vascular flap of frontalis muscle is recruited into the eyelid so that the eyelid moves with brow movement. Some people refer to the technique as “frontalis sling,” although Dr. Kahana usually avoids the use of a formal sling material, preferring the more biological approach of frontalis muscle reanimation. There are many advantages to the reanimation technique, including avoidance of an implant and associated complications, and the reduced need for “redo” surgeries when the implant fails. However, there are situations in which Dr. Kahana will use a traditional frontalis sling, such as when the health of the patient necessitates minimal surgical time.
This is a 1 year old with severe bilateral congenital ptosis interfering with developmental milestones, causing ocular torticollis, and putting him at risk for amblyopia. He underwent bilateral congenital ptosis repair with septal excision and frontalis muscle reanimation flap. Post op at 11 days.
This is a 3 month old who was born with near total right upper eyelid ptosis, at risk for neurogenic vision loss. He underwent urgent right upper eyelid ptosis repair with frontalis muscle reanimation flap. Post op at 2.5 months.
These are before/after photos of a young boy with blepharophimosis syndrome. The severity of his ptosis threatened his visual development. He underwent ptosis repair surgery, including frontalis muscle flap reanimation and levator advancement, and now he can see. The results have been stable since 2019.
This is an 8 month old with right congenital ptosis associated with Marcus Gunn phenomenon, causing significant amblyopia. She underwent right congenital ptosis repair with frontalis muscle flap reanimation. Post op at 3 days.
