Genetic study of blepharoptosis among Egyptians

This study was aimed to develop an etiological classification of congenital blepharoptosis among Egyptian children and also to differentiate between congenital blepharoptosis as an isolated anomaly or part of a syndrome.

Blepharoptosis refers to dropping of the upper eyelid. The difference in the height of the fissures with the eyes in primary position signifies the amount of ptosis. Ptosis has traditionally been divided into congenital and acquired types.

Thirty six patients presenting with blepharoptosis (22 males and 14 females) were examined. All patients were subjected to thorough detailed personal and family history, three generation family pedigree construction, and detailed clinical examination with complete eye evaluation. Investigations such as cytogenetic studies, EEG, ECG, EMG, X-ray, and MRI were done needed.

Patients were classified into 4 groups: I--simple congenital ptosis (28%), II--blepharophimosis-ptosis-epicanthus inversus syndrome (25%), III--congenital fibrosis of extraocular muscles (CFEOM) (14%), IV--ptosis associated with syndromes (33%).

Clinical aspects of blepharoptosis are related to etiology. The ophthalmologist should be alert for the possibility of coexisting associated defects (ocular and systemic) in patients with blepharoptosis. Genetic evaluation of patients with blepharoptosis is important to allow accurate diagnosis and to permit appropriate counseling on potentially life-threatening health issues (Tab. 5, Fig. 4, Ref: 37).