EPOS

European Paediatric Ophthalmological Society

Abstract Preview

30 Congenital blepharophimosis syndrom in children (clinic, genetics, results of surgical treatment)

Bobrova, N.F., Tronina, S.À., Khrinenko, V.P.
The Filatov Institute of Eye Diseases and Tissue Therapy Odessa, Ukraine

Purpose: To study the clinical and genetic features of congenital blepharophimosis syndrome and the efficiency of its surgical correction with the use of original complex technique

Methods: Profound clinical investigations including ocular adnexae structures, morphometric measurement in 108 children aged from 3 to 15 years with congenital blepharophimosis syndrome, medical-genetic study (49 children), magnetic resonance images (MRI) of ocular adnexa and anterior part of the orbit (10 eyes), original complex technique of blepharophimosis syndrome surgical correction (49 children - 70 eyes).

Results: Medical-genetic study has confirmed the existence of two types of the blepharophimosis syndrome described by Zlotogora (1983) and also high penetrance of the gene. The importance of medical-genetic consultation of children with blepharophimosis syndrome is stipulated by the possibility of predicting such serious accompanying diseases, as female sterility in I-st type of the syndrome.

The use of MRI has allowed to reveal a number of not earlier described topographic-anatomical features of the eyelids and anterior part of the orbital structure in children with blepharophimosis syndrome: bulging out of the orbital septum with increase of the preaponeurotic fat pad volume; suborbicular fat pad thickening; shortening and thickening of the mobile part of the upper eyelid; feebly marked and low situated palpebral fold.

On the basis of the analysis of profound clinical study results, investigation of topographic-anatomical features of the ocular adnexa and the anterior part of the orbital structures in children with blepharophimosis syndrome, a complex surgical method of one-stage correction of all parts of the syndrome has elaborated. The new method includes the dosated levator and upper tarsus resection, shortening of the medial canthal ligament and extensive skin plasty of the upper eyelid and medial canthus. The new technique allows to increase the efficiency of the surgical treatment in up to 92 %, to achieve stable cosmetic results as to ptosis and epicanthus inversus elimination, palpebral fissure widening (on the average 5,2 ± 0,2 mm) and lengthening (on the average 3,8 ± 0,14 mm), increase of its area (on the data of computer account on the average 58,3 ± 4,72 %). The functional results of the operation consists in the appearance of levator function (75 % of cases) or its strengthening in case of insignificant function existing preoperatively (25 % of cases).

Control MRI investigation in the postoperative period has allowed to confirm the normalisation of the topographic-anatomical structures of the ocular adnexa and anterior part of the orbit: diminution of orbital septum bulging out, palpebral fold up displacement in a more correct position, decrease of thickness and lengthening of the mobile part of the upper eyelid.