Genetic testing for inherited ocular conditions in a developing country
Journal
Ophthalmic Genetics
ISSN
1381-6810
1744-5094
Date Issued
2020
Author(s)
Joaquín I. Oporto
Juan I. Verdaguer
Juan Pablo López
Sergio Zacharías
Pablo Romero
Diego Ossandón
Oliver Denk
Olga Acuña
José Manuel López
Ricardo Stevenson
Bernardita Álamos
Hernán Iturriaga
Type
Resource Types::text::journal::journal article
Subjects
inherited ocular conditions
;
sensitivity
;
genetic testing
;
abca4
;
leber's congenital amaurosis
;
adolescent
;
adult
;
child
;
child, preschool
;
developing countries
;
eye proteins
;
female
;
genetic testing
;
genotype
;
humans
;
infant
;
infant, newborn
;
male
;
middle aged
;
mutation
;
phenotype
;
retinal diseases
;
young adult
;
eye protein
;
adolescent
;
adult
;
anophthalmia
;
article
;
best corrected visual acuity
;
blood sampling
;
child
;
coloboma
;
developing country
;
electrophysiology
;
eye disease
;
eye fundus albipunctatus
;
female
;
gene mutation
;
gene sequence
;
genetic disorder
;
genetic risk score
;
genetic screening
;
genotype
;
human
;
infant
;
laser coagulation
;
leber congenital amaurosis
;
leukodystrophy
;
macular degeneration
;
major clinical study
;
male
;
microangiopathy
;
microphthalmia
;
molecular diagnosis
;
multicenter study
;
neovascular glaucoma
;
newborn
;
night blindness
;
nuclear magnetic resonance
;
observational study
;
ophthalmology
;
ophthalmoscopy
;
phenotype
;
priority journal
;
prospective study
;
retina dystrophy
;
retina ischemia
;
retina neovascularization
;
school child
;
whole exome sequencing
;
case report
;
genetic screening
;
genetics
;
middle aged
;
mutation
;
preschool child
;
procedures
;
retina disease
;
young adult