Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt

Abstract

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.

Childhood glaucoma registry in Germany: initial database, clinical care and research (pilot study)

“…There are different registries in almost all other areas of ophthalmology worldwide [26][27][28][29][30][31], including several glaucoma registries [32][33][34][35], but only few congenital glaucoma registries [1,3,21].…”