Introduction
The eyes are one of the essential organs of the human body. It provides vision and sends visual information to the brain. However, many conditions affect normal functioning, like the opening and closing of the eyes. One such condition is blepharophimosis syndrome. It is a rare genetic condition. It is also known as blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES).
What Is Blepharophimosis?
Blepharophimosis is a rare dysmorphic syndrome that affects the soft tissues of the mid-face. There are two types of blepharophimosis syndrome such as:
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Type I - Type I is associated with early menopause or primary ovarian insufficiency. In this condition, the ovaries do not produce the average amount of estrogen at around the age of 40. In genetic-related early menopause, there is an alteration in one X chromosome, which is very fragile and breaks easily. When this condition is linked with blepharophimosis, the early menopause symptoms start to show at a very young age of around 15.
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Type II - It shows symptoms only of the eyelids characteristics such as droopy upper eyelids and horizontal narrowing of eyes while opening.
What Causes Blepharophimosis?
Blepharophimosis is an inherited condition which means a mutation in a particular gene leads to this condition. A mutation in the FOXL2 (forkhead box) gene affects the eyelids and ovaries. FOXL2 gives instructions to make a protein that attaches to particular parts of the DNA (deoxyribonucleic acid). It is also known as a transcription factor. The FOXL2 protein is present in many tissues, including eyelids, and primarily helps build the muscles in the eyelids. This protein starts its mechanism before birth as it regulates the proliferation and growth of granulosa cells (ovarian cells that produce hormones).
If type II blepharophimosis occurs, it affects or impairs the normal movement and development of muscles in the eyelids, which means a partial loss of the FOXL2 protein. On the other hand, when there is a total loss of FOXL2 protein, it leads to impaired eyelid development and various functions of the ovaries (premature death of egg cells), which is one of the reasons for early menopause in young females. Individuals affected with this condition have a 50 percent chance of passing this condition to their offspring.
What Are the Clinical Features of Blepharophimosis?
Some of the common clinical features observed in this condition include the following:
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Horizontally narrowing of the eyes (blepharophimosis).
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Droopy eyelids (ptosis).
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A visible upward fold of the lower eyelids (epicanthus inversus).
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Increased distance between the eyes than normal (telecanthus).
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Eyelids turn outward (ectropion).
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The outer corners of the eyelids shifts downwards (euryblepharon).
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In most cases, the patient will always have a chin-up position to see from under the eyelids (ocular torticollis). Also, due to this, there may be stress on the neck and delayed motor development.
These symptoms may usually lead to difficulty opening the eyes and impact visual development in childhood.
How Is Blepharophimosis Diagnosed?
It is diagnosed by a complete clinical examining the four main symptoms present from birth. To diagnose type II blepharophimosis, ptosis, epicanthus inversus, and telecanthus symptoms are noted. To diagnose type I, all four mentioned symptoms, along with premature ovarian insufficiency, are noted.
Premature ovarian insufficiency can be suspected if the patient has irregular periods or difficulty conceiving a child. Along with this, a pelvic examination and hormone level (abnormal level of follicle-stimulating hormone) blood test may help confirm the diagnosis. To rule out the FOXL2 gene mutation, a genetic test is preferred.
Genetic Testing - This test helps identify gene mutation by studying DNA sequencing that can lead to an increased risk of a genetic disorder. A healthcare expert will take the blood from the arm’s vein, and for newborns, a needle is pricked on the foot's heel. The sample is stored in a vial or a test tube and sent to a laboratory for testing.
How Is Blepharophimosis Managed?
The treatment procedure should be focused on type II and type I. To treat type II symptoms; surgical intervention is the best option.
The correction of epicanthus inversus and telecanthus starts with blepharophimosis and is done between three and five years of age. A surgical procedure, medial canthoplasty, depends on which eyelid (upper or inner) obstructs the vision.
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In medial canthoplasty, the skin flap is moved to fix the orientation of the tissue by pulling the skin fold inward. Along with this, the abnormal medial canthal fat is debulked so that the position of the nasal bridge is anatomically correct.
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The blepharophimosis surgery helps elevate the upper eyelid to clear the pupil without a chin-up. However, in most cases, the levator palpebrae superiors muscle (that elevates the eyelids) does not function properly, so a frontalis sling operation is performed. In this procedure, the frontalis muscle (in the forehead that helps raise eyebrows) is attached to the upper eyelid, which helps control the eyelids through the eyebrows.
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Patients with primary ovarian insufficiency are advised to undergo genetic counseling and hormone replacement therapy. This therapy is mainly advised for young females who want to lower their menopausal symptoms. It may be given in tablet, patch, or gel form and should always be taken under a doctor’s guidance.
The correct timing of any of these surgeries depends on the individual's visual development and as determined by a specialist.
What Is the Prognosis of Blepharophimosis?
The outlook for individuals with blepharophimosis depends on the severity of the condition and the presence of any associated complications. In general:
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Type II Blepharophimosis: The prognosis is typically positive for individuals with type II, as the condition mainly affects eyelid characteristics. Surgical procedures can effectively correct eyelid abnormalities, leading to improved eyelid movement and visual function.
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Type I Blepharophimosis: The outlook for type I is influenced by the presence of early menopause or primary ovarian insufficiency. Hormone replacement therapy can help manage menopausal symptoms in affected young females. Genetic counseling and family planning options can provide valuable guidance for individuals with type I to make informed decisions about their reproductive health.
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Visual Development: Early diagnosis and surgical correction of blepharophimosis during childhood can significantly enhance visual development and prevent complications such as ocular torticollis. Regular eye check-ups and follow-up care are crucial to monitoring eye health and addressing potential issues.
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Quality of Life: With appropriate medical care and support, individuals with blepharophimosis can lead fulfilling lives. Ongoing advancements in medical research may offer new treatment possibilities, further improving the quality of life for those affected.
Conclusion
Blepharophimosis is a rare disorder that affects the eyelids and is present at birth. It occurs due to a mutation in a gene known as FOXL2. It is easily diagnosed by a proper clinical examination and genetic testing. Surgical management helps restore normal eyelid movements and does not cause any complications. If the eyelids are repaired at the correct time with a proper follow-up, the patient with blepharophimosis will be able to develop normal vision. This condition does not affect intellectual development in any way. In young females, proper doctor’s guidance helps in recovering from the symptoms of early menopause.
