Ocular features in Egyptian genetically disabled children

Abstract

Ocular changes in genetically disabled children are great and of special importance. The aim of the present study was to delineate the nature and frequency of ocular defects in genetically disabled children. A cross sectional study was carried out. It included 95 genetically disabled children who were chosen from the medical genetics and ophthalmic departments, Ain-Shams University Hospitals, and examined for any associated ocular abnormalities. Studied patients were divided into six groups (Group I: Chromosomal disorders (Down syndrome), Group II: Genetic syndromes, Group III: Cranial anomalies, Group IV: Inborn errors of metabolism (IEM), Group V: Cerebral palsy, Group VI: Mental retardation). Anomalies of the eyelids were detected in 63.1% of our patients. They were significantly increased in group I [Chromosomal disorders (Down syndrome)], compared to other groups. Errors of refraction were detected in all Down syndrome patients.On the other hand some ocular findings were present in our Down syndrome patients and not reported in the literature before; these include, lacrimal fistula, lagophthalmos, heterochromia, macrocornea and ectropion in 3.3% of patients, tortous retinal vessels, entropion, and prominent upper punctum in 6.6%, ptosis in 10%, microcornea, absent foveal reflex, and blepharophimosis in 13.3% of our cases. Lacrimal apparatus abnormalities were detected in 11.5% of our patients, the highest frequency was detected among the chromosomal disorder group 27%. Conjunctival and scleral abnormalities were also detected in 10.5% of our patients, where the group of chromosomal disorders had the highest frequency (20%). Cornea and anterior chamber abnormalities were detected in 30.5%, these abnormalities had the same frequency (33%) in the groups of chromosomal disorders, genetic syndromes and inborn errors of metabolism. Iris and pupil abnormalities were detected in 15.7% of our patients. Lens abnormalities were detected in 10.5% of our patients, where the group of inborn errors of metabolism had the highest frequency (44%). Ocular muscles and mobility abnormalities were diagnosed in 47.3% of our patients. Fundus examination revealed abnormalities in 34.7% of patients,where the group  of cerebral palsy had the highest frequency (50%).Our results emphasize that, the earlier and better the visual sense function, the greater the chance the child will achieve his potential.The ophthalmologist, paediatricians, geneticists must work hand in hand for detection of ocular disorders in genetically disabled children to initiate diagnostic and therapeutic measures to control the disease. 

Keywords: Disability; Genetics; Ocular changes; Handicap; Chromosomal  abnormalities