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Congenital blindness is a hereditary disease and can be treated by gene therapy. Visual loss in children or infants can occur either at the prenatal stage (during the time of conception or intrauterine period) or postnatal stage (immediately after birth). [3] There are multiple possible causes of congenital blindness.
Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). Many times, de Morsier’s Syndrome or septo-optic dysplasia (SOD) is associated with ONH, however, it is possible to have ONH without any additional issues like SOD. SOD is a condition that can involve multiple problems in the midline ...
Infant visual development. A seven-week-old human baby following a kinetic object. Infant vision concerns the development of visual ability in human infants from birth through the first years of life. The aspects of human vision which develop following birth include visual acuity, tracking, color perception, depth perception, and object ...
Congenital rubella syndrome. Congenital rubella syndrome (CRS) occurs when a human fetus is infected with the rubella virus (German measles) via maternal-fetal transmission and develops birth defects. [ 1] The most common congenital defects affect the ophthalmologic, cardiac, auditory, and neurologic systems. [ 2]
Saethre–Chotzen syndrome ( SCS ), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull ). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Retinopathy of prematurity ( ROP ), also called retrolental fibroplasia ( RLF) and Terry syndrome, is a disease of the eye affecting prematurely born babies generally having received neonatal intensive care, in which oxygen therapy is used because of the premature development of their lungs. [ 2]
Genetic ( autosomal recessive) [ 1] Frequency. 1 in 40,000 newborns [ 1] Leber congenital amaurosis ( LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. [ 2] It affects about 1 in 40,000 newborns. [ 1] LCA was first described by Theodor Leber in the 19th century. [ 3][ 4] It should not be confused ...
Congenital hypothyroidism ( CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as ...