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.