ABSTRACT
This study described the craniofacial anomalies in correlation with ocular, intracranial, cytogenetic and electro- physiological findings in children with anophthalmia/microphthalmia. Twenty cases with congenital anophthalmia/microphthalmia [11 males, 9 females with age range from 8 days to 9.5 years] were examined. Seventeen cases had bilateral clinical anophthalmia/microphthalmia, while three cases had unilateral microphthalmia/anophthalmia. Patients with clinical anophthalmos/microphthalmia had associated congenital brain malformations [10/20 patients, 50%], genital anomalies [6/20, 30%] and major congenital orodental abnormalities [2/18 patients, 11.1%]. Eight cases of 11 with bilateral microphthalmia [72.7%] were reported to have bilateral congenital cataract. In addition, 6 cases [6/10, 60%] had abnormal visual evoked potentials [VEP] and electroretinogram [ERG]. The results presented the correlation between VEP and clinical, neuroimaging picture and/or the ophthalmological abnormalities. Eye defects are heterogeneous, since they were observed in clinical patterns with all modes of inheritance. Autosomal-recessive syndromes represent 55% of total syndromes, followed by syndromes of autosomal-dominant inheritance [15%], X- linked dominant [10%], chromosomal structural abnormalities [10%] and caused by environmental agents [10%]. Nevertheless, high rate of consanguinity [11 cases, 55%] with mean inbreeding coefficient of 0.0512 and the similarly affected sibs highlight the role of single gene disorder in the country. The contribution of electrophysiology of the eye, MRI of brain, cytogenetic and orodental examinations were useful for better determination of visual function and identification of potential underlying multisystem disease, subsequently, improving parental understanding and genetic counseling