Optic Nerve Hypoplasia is a congenital condition in which the optic disc is smaller than normal. Patients may present with reduced vision and nystagmus, and may also have central nervous system malformations and pituitary gland problems. Treatment is directed at the patient’s symptoms. A proper refraction examination should be performed to help the patient achieve their maximum visual potential. Any accompanying hormonal deficiencies should be treated with hormone replacement therapy.
Optic neuritis presents with reduced visual acuity, color vision impairment, and visual field defects. In children, bilateral involvement is more common than in adults. Pediatric optic neuritis can develop following a flu-like infection or vaccination, but may also be associated with sarcoidosis, tuberculosis, syphilis, viral infections such as VZV and EBV, or medications. Diagnosis requires MRI imaging to rule out underlying intracranial lesions and to demonstrate optic nerve involvement, and CSF analysis may be performed to detect any underlying disease.
Hereditary optic neuropathies present with symmetric, bilateral central vision loss. Typically, there is a central or centrocecal visual field defect due to papillomacular nerve fiber damage.
Leber’s Hereditary Optic Neuropathy (LHON) is caused by a mitochondrial DNA mutation with maternal inheritance. It usually begins between ages 15–35 with painless central vision loss in one eye, and within months, the other eye is affected. Vision loss is generally permanent, although some patients may experience slight improvement years later. Patients at risk for LHON should avoid smoking, alcohol, and environmental toxins. Research on gene therapy is ongoing.
Dominant optic atrophy typically presents between ages 10–20 with slowly progressive bilateral vision loss. Temporal or diffuse optic disc atrophy is observed and is associated with mutations in the OPA1 gene.