Eye Anomalies in Different Genetic Disorders: Study of 20 cases

The eye has always provided a diagnostic window for hereditary and acquired systemic diseases. We aimed to thoroughly examine the ocular anomalies associated with genetic disorders in order to confirm the clinical diagnosis, also to record new findings that may not have been reported before in known disorders or might lead to discover a new syndrome. This study included twenty patients presented with different genetic disorders associated with eye anomalies. Patients were subjected to full history taking, family pedigree analysis, thorough clinical examination, anthropometric measurements and complete eye evaluation. IQ, cytogenetic, radiological, histopathological and other investigations were performed when indicated. The twenty patients were classified into 6 groups according to other system involvement, group I: were patients with skin diseases, group II: patients with mental retardation, group III: patient with brain anomalies, group IV: patients with dysmorphic syndromes, group V: patients with metabolic disorders, group VI: patients with isolated eye anomalies. We were able to accurately diagnose 18 cases with 13 disorders. Further investigations were needed for 2 syndromes.We observed new eye anomalies that were not previously reported in two sibs with a new syndrome of congenital cataract with lipoid proteinosis. Findings will be discussed.