Blepharophimosis is a condition in which the eyelid suffers from malformation and is characterized by four distinct features – blepharophimosis, ptosis, epicanthus inversus and telecanthus. All of these features together give the term BPES to this syndrome. In this syndrome, the bridge of the nose is noted to be flat. Sufferers are also found to have hypoplastic orbital rim.
This condition was first described in the year 1889 by Vignes as a dysplasia of the eyelids. People suffering from BPES have high risk of developing vision problems and other disorders of the eye such as lazy eye and strabismus.
This syndrome can be divided into two types:
BPES TYPE I
Type I involves the four features of ptosis, epicanthus inversus, blepharophimosis and telecanthus. It also includes premature ovarian failure which leads to reduction in the frequency of menstrual periods which ultimately stop at the age of 40 years. It can also result in infertility and difficulty in conceiving a child.
BPES TYPE II
Type II does not involve any infertility and only consists of malformation of the eyelids.
The condition arises when there are alterations in the FOXL2 gene. This particular gene provides instructions for synthesizing protein which helps in the development of eyelids and ovaries before birth. The protein FOXL2 stays active in the ovaries through life. Changes in the FOXL2 have a serious impact on the functions of the FOXL2 protein in the eyelids and ovaries which lead to development of BPES Type I. Gene alterations that affect only the eyelids are Type II BPES.
This syndrome is inherited by a child from his or her parents in an autosomal dominant pattern. This implies that one copy of the mutated gene in every cell is enough to cause this syndrome. In some cases, however, it is noted that an individual might inherit the mutation from one affected parent.
The symptoms of this disorder include:
- Broad and low nasal bridge
- Cup-shaped ears
- Arched eyebrows
- Abnormalities with lacrimal drainage
- Optic disc coloboma
- Narrowing of the eye
- Droopy nature of the eyelids
- Upward folding of the inner corners of the eye
- Unclear vision as eyelids do not open fully
- Nearsightedness or myopia
- Lazy eye or amblyopia
- Far-sightedness or hyperopia
The diagnosis of this disorder is done on the basis of clinical findings. Another sure way of detecting this disorder is molecular genetic testing of FOXL2 gene.
Clinical Finding Criteria
The criteria for the clinical determination of this condition include the following:
In this condition, the horizontal aperture of the eyelids gets narrowed.
A skin fold is noticed to be arising from the lower eyelid which runs upward and inward.
Inner canthi get displaced laterally with normal intepupilllary distance.
The eyelids get droopy which leads to narrowing of the vertical palpebral fissure. This also leads to head tilted backwards with chin up position and brows get pulled upwards which lends a distinct facial appearance.
Females with premature failure of the ovary need to be tested. Experts check endocrinology results for hypergonadotropic hypogonadism which involve test for high serum concentrations of follicle-stimulating hormone and luteinizing hormone. The results also show reduced serum amounts of estradiol and progesterone.
An ultrasound examination reveals a small uterus which is hypoplastic and also ovaries which are streaky in nature.
Treatment of this condition involves the work of a team of specialists which includes a pediatric ophthalmologist, geneticist, endocrinologist, oculoplastic surgeon and gynaecologist. The main treatment options include:
Eyelids have to be corrected with the help of surgery. Surgery includes medial canthoplasty to rectify the damages made by telecanthus, blepharophimosis and epicanthus when a child is about 3-5 years of age. A year later, surgeons carry out the ptosis correction which also serves to correct brow suspension. Telecanthus is treated by reducing the length of medial canthal tendon and is merged with a transnasal wire. For epicanthus, if the folds are not big enough, a Y-V traditional canthoplasty is done. However, if the folds are big, a double Z-canthoplasty is done.
Hormone Replacement Therapy
Experts in the American Society for Reproductive Medicine and the International Menopause Society have asserted that estrogen replacement therapy can be helpful for women suffering from ovarian insufficiency. A reasonable dosage of 100µg of transdermal estradiol and 10mg of medroxyprogesterone acetate taken orally on a regular basis for 12 days every month will be sufficient. Also, women should maintain a note of their menstrual calendar and check for pregnancy if the menses start late. Women are also advised to maintain a healthy lifestyle which will keep the bones and the heart healthy. Conducing weight-bearing exercise along with sufficient intake of calcium and vitamin D will reduce the risk factors.
No treatment options have yet been discovered to correct infertility problems associated with the disorder. Thus, couples planning parenthood have to opt for egg donation, embryo donation, adoption, or foster parenthood. Ovarian transplantation has also been opted for in certain cases and has turned out successful. However, a lot of health complications are involved in the above procedures. Thus, it is advisable to discuss the options with sufferers.
Medical check-ups by ophthalmologists, gynecologists and endocrinologists should continue. Relatives who are at risk should go for genetic testing. Prenatal testing during pregnancy is possible if the fetus is at extreme risk. Genetic counseling is required to identify if there is any mutated gene running in the family.