الفهرس 
Mulitple congenital anomaliesOnly 14 pages are availabe for public view
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Abstract
Over the past decade, there has been an increase in our knowledge of heritable eye conditions. Our ability to provide accurate genetic diagnoses has allowed appropriate counseling to patients and families. The objective of this study to access the importance of ocular anomalies in genetic disorders & early detection of ocular anomaly which may be the guide line for many genetic syndromes.
We studied 100 cases of children & infants attending genetic clinic at Ain Shams University and Research institute of ophthalmology. Their age ranging from 1 day to 18 years.
56 cases were males and 44 were females.
All cases were subjected to complete ophthalmological examination including slit lamp examination, fundus examination, visual evoked potential (VEP), electroretinogram (ERG) & ocular ultrasonography whenever required.
They were classified into two main categories (isolated eye anomalies and multisystem disorders) according to clinical examination and investigation done.
Karyotype was done whenever indicated for recommended patients with multiple congenital anomalies to exclude chromosomal aberration.
Out of the included cases 100 cases had positive parental consanguinity (61 %).
75 cases out of 100 patients had no similar affected members in the family (75%).
56 cases of the 100 patients (56%) were part of multiple congenital anomalies a known recognizable syndrome, sequence or association and 12 cases (12%) were having chromosomal disorders and 14 cases (14%) were isolated ocular congenital anomalies and the other 18 cases (18%) were classified as other causes of genetic diseases.
Early detection of suspected ocular anomalies in suspected genetic syndromes with eye defect and early intervention for prevention of ocular complications if possible by medical treatment or even regular follow up.
Genetic counseling is highly recommended specially in syndromic ocular malformations with multiple congenital anomalies or known syndromes. The counseling would help in avoiding the recurrence of such diseases and hence prevention through prenatal diagnosis if possible.