Many abnormalities of the visual system in infants and young children respond to treatment when instituted at an early age. Ocular abnormalities that require early recognition and therapy include congenital cataracts, congenital glaucoma, intraocular tumors, intraocular inflammation, large errors of refraction, strabismus, and corneal opacities (Figs 1 to 6). The visual prognosis for children with these problems is often directly related to early detection and treatment of the visual disorder.
Visual deprivation of young laboratory animals can permanently damage their developing central nervous system. Diseases once believed hopeless, such as monocular congenital cataracts, can now be treated.1 Technologic advances, such as extended-wear contact lenses which are useful for infants who have had cataract surgery during the first few weeks of life, have facilitated visual rehabilitation of young eyes.
Corneal opacities, complete ptosis, prolonged patching, and eyelid or orbit abnormalities such as large hemangiomas can cause amblyopia if the vision is obstructed. Even brief occlusion can result in irreversible amblyopia during the early months of life.2 Unilateral disruptions of vision are generally more damaging to the eye than are bilateral ocular abnormalities. Each of the young child's eyes must enjoy a clear, focused retinal image for visual development to progress normally.
Early diagnosis and treatment of congenital glaucoma is important so that intraocular pressure can be lowered, thereby, avoiding irreversible anatomic damage to the eye.
A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
