Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt.
Ophthalmic Genet
; 38(5): 418-421, 2017.
Article
en En
| MEDLINE
| ID: mdl-28107085
ABSTRACT
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 ANDMETHODS:
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 ANDCONCLUSIONS:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Sistema de Registros
/
Anomalías del Ojo
/
Enfermedades Genéticas Congénitas
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
/
Screening_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Región como asunto:
Africa
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Egipto