Dr. Ashutosh Kumar Singh, S12748, Dr. Tanisha Ojha, Dr. Kirti Rani, Dr. Ashok Kumar Grover
The Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a rare developmental eye condition, is characterized by shortening of the horizontal palpebral fissure (blepharophimosis), congenital ptosis, epicanthus inversus and telecanthus. There are three different variations recognized. Type 1 classically presents with blepharophimosis, ptosis, telecanthus and epicanthus inversus. Patients with type 2 present with ptosis, telecanthus and lower lid ectropion. Ectropion is due to a relative sparsity of lower eyelid skin. Type 3 resembles type 2 except for having associated hypertelorism. Additional findings may include a poorly developed nasal bridge, hypoplasia of the tarsal plate, prominent vertical brow hair extending across the nasal bridge, a flat brow and low-set ears. The condition is either inherited as autosomal dominant trait or occurs sporadically. BPES is caused by mutation in FOXL2 gene on chromosome 3q23.
Materials and Methods
A retrospective analysis was carried out in 75 cases of BPES who presented to our centre at Vision Eye Centre, New Delhi between January 2008 and July 2016. Preoperative evaluation included measurement of visual acuity and cycloplegic refraction. Glasses were prescribed in patients of significant ametropia and anisometropia. In anisometropic patients, occlusion was also advised in addition to glasses. Facial asymmetry, flattening of nasal bridge, presence and type of epicanthus and measurement of horizontal and vertical palpebral fissure were noted. Most patients had faint or absent upper eyelid crease. Distance of lid crease from lid margin (Margin Crease Distance), distance of corneal light reflex from upper (MRD1) and lower (MRD2) lid margins were measured. Levator excursion was measured after blocking frontalis action. Bell’s phenomenon was observed in all cases and patients of only fair to good Bell’s phenomenon were advised for frontalis sling surgery. Thorough examination of anterior and posterior segment including ophthalmoscopy were performed. Females of pubertal age were referred for gynaecological evaluation and parents of younger patients counselled regarding the problems.
Results
75 patients (age range – 4 to 22 yrs), with 51 males (68%) and 24 females were included in the study. 70 Patients (93%) were offered 2 stage and 5 patients single stage surgery. Cases where 2 stage procedures were advised, the second stage surgery was performed six months after the first stage. Surgery for epicanthus, telecanthus and in some cases lateral canthoplasty were performed as stage 1 procedure. Transnasal wiring and tucking of medial palpebral ligament (MPL) were performed in 68 patients (91%) and 7 patients respectively for correction of telecanthus. Y-V plasty and Mustarde Z plasty were done to correct epicanthus. Bilateral fascia lata sling for ptosis was performed in second stage. Follow up period ranged from 6 months to 5 years. The results are shown in the table below.
| Measurements | Pre-op (mm) | Post-op (mm) |
| Horizontal palpebral aperture | 15-23 (mean=19.6) | 26-31(mean=28.2) |
| Vertical palpebral aperture | 2-4 (mean=2.8) | 6-8(mean=6.9) |
| Levator action | 1-3 | |
| Intercanthal distance | 35-41 (mean=37.3) | 26-32(mean=29.2) |
Discussion
Cases of BPES can be operated in one stage or two stages at the age of 3-5 years. Second stage procedure should be performed six months after the first stage. Telecanthus and epicanthic folds are addressed in first stage surgery and ptosis in the second stage. During first stage telecanthus is corrected either by transnasal wiring or tucking of medial palpebral ligament. Severe telecanthus usually requires transnasal wiring. For correction of epicanthic fold either Y-V plasty or double Z plasty is performed. Other techniques described for epicanthus correction are Roveda technique and Kohn’s C-U plasty. BPES patients usually have severe ptosis with poor levator action and thus a frontalis sling becomes the ideal procedure for correction of ptosis. In conclusion, we demonstrated that the horizontal palpebral aperture dimension improved markedly after surgery and was comparable to normal individuals. Similarly ptosis improved in all cases and became almost bilaterally symmetrical.
References
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