Clinical Analysis of Seventeen Korean Families of Hereditary Congenital Cataract

ABSTRACT

To elucidate genetic traits, clinical findings and treatment outcomes in Korean families with hereditary congenital cataract, 24 patients(17 families)were retrospectively analysed. Genetic trait was analysed by family pedigree. Chief complaints, ages at diagnosis, bilaterality, types of lens opacity, associated systemic or ocular anomalies were examined. The final best-corrected visual acuity was compared among groups according to the presence of surgery or the age at diagnosis. Among 17 families, 15 belonged to an autosomal dominant trait and two an autosomal recessive trait. Bilateral cataracts were shown in all patients. Twelve(50.0%)out of 24 patients who had cataracts were diagnosed before 3 months of age. Five(29.4%)out of 17 patients who received surgery were done before 3 months of age. Final best-corrected visual acuity was not different between surgery group before 3 months of age and that of after 3 months of age. Associated ocular anomalies were microphthalmia(4 patients), nystagmus(4 patients), and esotropia(3 patients), but no systemic anomalies were found. These results show that most Korean families with hereditary congenital cataract have an autosomal dominant genetic trait and the age at diagnosis or surgery is too late to treat them properly.