INTRODUCTION This is a group of related congenital eyelid deformities with a strong autosomal dominant hereditary etiology although sporadic cases also occur. Blepharophimosis refers to a horizontal narrowing of the palpebral fissure, and the syndrome (known as BPES) is characterized by blepharophimosis, ptosis, and epicanthus inversus. Depending upon the presence (type I) or absence (type II) of premature ovarian failure, two clinical forms have been described. Both forms have been mapped to chromosome 3q23 and are due to mutations of a forkhead
Blepharophimosis Syndrome (Contd.)
transcription factor FOXL2 gene. Intelligence is not affected and there are no associated systemic abnormalities. The condition is always bilateral and symmetrical. Blepharophimosis is also seen as a part of other syndromes including Michels syndrome (blepharophimosis plus cleft lip and-palate, and mental retardation), Carnevale syndrome (blepharophimosis plus abnormal ears, strabismus, and umbilical diastasis), OSA syndrome (blepharophimosis plus humeroradial synostosis and spinal abnormalities), van den Ende-Gupta syndrome (blepharophimosis plus arachnodactyly and congenital contractures), the Schwartz-Jampel syndrome (blepharophimosis plus ptosis and blepharospasm), and Ohdo syndrome (blepharophimosis plus mental retardation, dental hypoplasia, and partial deafness).
CLINICAL CHARACTERISTICS There is a wide variation in the range and degree of features seen in this disorder. The classical appearance is of reduced horizontal length of the palpebral fissures, flattening of the supraorbital ridges, and arching of the eyebrows. The upper lids show varying degrees of myogenic ptosis that may be so severe as to result in marked backward head tilt. The upper eyelid crease is usually absent. Epicanthus inversus is present and may be mild to severe. A manifest strabismus is seen in 20% of children, mostly esotropia, and 35% have refractive errors enough to warrant corrective lenses. Forty percent of children will have some degree of ambly-opia. Telecanthus may be present but the extent is variable. Rare cases have been described associated with other ophthalmic abnormalities including Duane syndrome, microphthalmos, and ocular colobomas. Acquired blepharophimosis is associated with laxity or disinsertion of the lateral canthal tendon.
TREATMENT Treatment is indicated when visual function is threatened or for improved cosmesis. When the ptosis is severe enough to cause amblyopia, repair must be undertaken at an early age. When levator muscle function is poor or absent a frontalis suspension procedure will be required. Correction of the epicanthus and telecanthus are best delayed until the child is at least two years old in order to allow for tissues around the nose to develop enough to make surgery easier. In most cases any telecanthus does not have to be repaired since correction of the epicanthus will give adequate cosmetic results. The epicanthus is repaired with a Y to V procedure or a more complicated four-flap technique that combines a Y to V with multiple Z-plasties. When telecanthus is to be corrected, medial displacement of the canthal tendons with or without resection of bone will usually be required.
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