Background: The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is very important. The aim of this study is to evaluate the frequency and types of congenital ocular anomalies among patients with genetic disorders.
Patients and methods: This is a retrospective study that was conducted in the National Research Center, Egypt at the Clinical Genetics Department over a 4-year period. Out of 2500 patients attending the outpatient clinics, a total of 61 patients with congenital ocular malformations (2.44%) were included in this study. They underwent clinical and genetic assessments.
Results and conclusions: Isolated ocular malformations were found in 70.5% while complex ocular anomalies were found in 29.5%. A total of 37.7% of the patients had a known recognizable syndrome, 24.6% of the patients were classified as having metabolic disorders and 37.7% of the patients were classified as having isolated disorders. Chromosomal abnormalities were found in 4.9% of the patients. Congenital cataract was the most frequent feature in syndromic, metabolic, and isolated disorders. Our study elucidates the significance of the early detection of ocular anomalies for appropriate diagnosis of genetic disorders.
Keywords: Congenital cataract; congenital ocular anomalies; genetic disorders; genetic ophthalmology.