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Optic nerve hypoplasia is a congenital condition that causes poorly developed vision, often accompanied by hormonal and developmental abnormalities. It is typically diagnosed in children aged three to four years and can lead to abnormal brain function, seizures, and pituitary gland malfunction. There is no cure, but affected individuals may receive regular care from an ophthalmologist, endocrinologist, and neurologist, as well as additional tools and services to improve their quality of life.
Optic nerve hypoplasia is a congenital condition in which a person’s optic or eye nerves are smaller than normal. This leads to poorly developed vision, which can range from slightly reduced vision in one eye to complete blindness. Additional hormonal and developmental abnormalities are frequently associated with the condition.
Optic nerve hypoplasia is typically diagnosed in children aged three to four years. Early signs of the former condition may include unusual eye movements called nystagmus, which is when the eye moves without focus or purpose. This can be a sign of vision problems in children, regardless of the condition. The damage caused by the condition is substantial and does not worsen over time.
Problems with optic nerve hypoplasia often extend beyond the eye and into the brain. Many with the condition also suffer from abnormal brain function which can range from very mild to severe. Abnormal brain function is usually caused by De Morsier syndrome. This disorder, also known as septo-optic dysplasia, is caused when the septum pellucidum of the brain is not fully formed.
When this section of the brain is underdeveloped, it can lead to minor or major problems with motor function, speech, and intelligence. Seizures are also common in children with the condition, but can usually be controlled with special medications.
Children who suffer from optic nerve underdevelopment may also have a malfunctioning pituitary gland. The pituitary gland is responsible for the body’s release of hormones that control everything from the body’s metabolism to sexual development later in life. If the pituitary gland does not produce these hormones, the child may be prescribed hormone shots to compensate for their absence.
There is no way to improve the vision of a child with optic nerve hypoplasia. Because of the wide variety of conditions and disabilities associated with the condition, affected individuals usually need to have regular care from an ophthalmologist, endocrinologist, and neurologist. Sometimes social workers and other caregivers are also involved to make sure the child receives the best care possible.
Children with optic nerve hypoplasia can sometimes go to school with non-disabled children, but if their brain function is severely impaired by the condition this may not be possible. Regardless of the type of education your child receives, they will need additional tools such as large-print books or magnifying glasses that can make small texts easier to read. They may also need to attend speech therapy and other additional services to improve their general life status.
