Congenital abnormalities of the eye
Anidiria
Discription
Absence of iris associated with other ocular features.
Pathophysiology
failure in the optic vesicle rim development between the 12th and 14th weeks of gestation.
Aniridia is due to inadequate migration or proliferation of mesenchymal elements during the second month of gestation.
The formation of the anterior segment involves a complex interaction of surface ectoderm, neuroectoderm, and neural crest.
Causes
Prior ocular surgery.
Iridocornealendothelial (ICE) syndromes.
Traumatic aniridia.
Risk factors
WAGR syndrome.
Bloom syndrome.
Perlman syndrome.
Simpson-Golabi-Behmel syndrome.
Nursing intervention
Degree of iris hypoplasia.
Presence of foveal and optic nerve hypoplasia.
Best corrected visual acuity.
Diagnostic studies
Slit lamp fundoscopy.
Optical coherence tomography.
High-frequency ultrasound biomicroscopy.
Optic nerve hypoplasia
Discription
Pathophysiology
Causes
Risk factors
Nursing intervention
Diagnostic studies
Is a medical condition arising from the underdevelopment of the optic nerve.
The optic disc appears abnormally small, because not all the optic nerve axons have developed properly.
It is often associated with endocrinopathies, developmental delay, and brain malformations.
RNA splicing.
cytoskeleton
Chromatin remodelling.
A-dystroglycan glycosylatio.
Maternal smoking.
Preterm birth.
Young maternal age.
Children should be monitored at least twice a year for growth.
Ultrasound examination through the anterior fontanelle.
Assessment of visual function, neonatal hypoglycemia, and jaundice.
Ophthalmic confirmation of a small optic disc with the vasculature appearing very large relative to the disc.
Vascular signs-Tortuous retinal vessels.
MRI of the intracranial visual pathways.
Signs and symptoms
Rapid eye movements.
Mild to severe visual impairment of one or both eyes.
Infants with ONH have involuntary.
Signs and symptoms
Superficial clouding of the cornea.
Underdevelopment of the fovea area of the retina.
Glaucoma.