At what age is septo-optic dysplasia diagnosed?

At what age is septo-optic dysplasia diagnosed?

It is a rare condition affecting around 1 in every 10,000 births, with boys and girls affected equally. Septo-optic dysplasia is a congenital condition so it is present at birth, although it may not be diagnosed until childhood, or rarely, adolescence.

Are people with septo-optic dysplasia blind?

Septo-optic dysplasia (SOD) is a developmental disease present at birth. It causes underdevelopment of your optic nerve, pituitary gland and certain parts of your brain. In severe cases, SOD can lead to blindness, developmental delays and hormone imbalances.

Is there a cure for septo-optic dysplasia?

Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

How does septo-optic dysplasia affect the brain?

The first major feature, optic nerve hypoplasia, is the underdevelopment of the optic nerves , which carry visual information from the eyes to the brain. In affected individuals, the optic nerves are abnormally small and make fewer connections than usual between the eyes and the brain.

Is septo-optic dysplasia a rare disease?

These and other symptoms may be signs of septo-optic dysplasia (SOD), a disease occurring in 1 in every 10,000 children. SOD is a disorder of early brain development and is diagnosed when two or more of the following are present: Optic nerves (nerves that help eye and brain communicate) do not develop properly.

Can you drive with optic nerve hypoplasia?

Some people with less severe cases of ONH can drive, however, most people with the disorder are unable to drive safely due to vision impairment or loss.

What is the difference between septo-optic dysplasia and optic nerve hypoplasia?

Optic nerve hypoplasia (ONH) is one of the most common causes of congenital visual impairment. It was first described in 1915 and represents a developmental disorder of the central nervous system. It is often associated with intracranial midline defects and is then referred to as septo-optic dysplasia (SOD).

How common is septo-optic dysplasia?

Septo-optic dysplasia remains a rare, heterogeneous and phenotypically variable disorder, which can pose significant diagnostic challenges; namely, the delay in diagnosis, the later development of hormonal deficiencies and the presence of other phenotypic features such as obesity and autism.

Does optic nerve grow after birth?

The normal human optic nerve (ON) grows from ~25 mm in length at birth to 40–45 mm in length and 3.4 mm in width by adulthood. This growth corresponds to the expansion of the normal human skull from birth to the end of puberty.

What is the difference between septo optic dysplasia and optic nerve hypoplasia?

What do people with optic nerve hypoplasia see?

Most people with ONH have abnormal eye movements (nystagmus) and vision can range from no light perception to good functional vision, or even full vision in one eye. Children with ONH may have brain malformations and pituitary problems.

What causes septo-optic dysplasia?

Causes of septo-optic dysplasia Researchers suspect that genetic and other factors during early development may combine to trigger the onset of the condition. The other factors being studied include viral infections, certain medications, and disruption in blood flow to the fetus’ brain at key stages of development.