What You Should Know About Leber’s Congenital Amaurosis

When you find out you are going to be a parent, all you think about are the joys and exciting times ahead. What you do not think about or want to consider is the possibility that your child may be born with any type of genetic or congenital health problem. However, while uncommon, genetic health disorders do occur. One such disorder, known as Leber's congenital amaurosis, is a disorder that affects the eyes and eyesight in affected children. Get to know some of the important facts about Leber's congenital amaurosis so that you can know what to look out for should your child be so affected.

What Exactly Is Leber's Congenital Amaurosis?

Leber's congenital amaurosis is a genetically inherited eye condition that causes poor vision and blindness in children. It usually manifests itself noticeably when the child is between two and three months old. It is passed on through recessive genes and can occur even if neither parent has the eye disorder themselves but both carry one recessive gene. 

Leber's congenital amaurosis affects the retina of the eye, making it so the eye cannot detect light properly or at all. It is a relatively rare genetic abnormality, though quite life-changing to those parents with children who inherit the disorder. 

What Are The Symptoms And How Is It Diagnosed?

The symptom that parents most easily recognize is a shaking of their baby's eyes known in medical terms as nystagmus. This likely occurs because the child's eyes are trying (and failing) to focus on objects, or the sources of sounds that the child cannot make out due to their retinal defect.

Your child may also rub and poke at one or both eyes frequently, or may have trouble visually tracking you or other objects, losing focus or looking in the wrong direction when they hear a sound. When you take your child in for an eye exam, the doctor will check their responses and retinas for issues. If they suspect Leber's congenital amaurosis, they will also run an ERG (electroretinogram) and draw blood to verify their suspicions.

What Are The Treatment Options?

Until recently, there were not many treatment options available for children with Leber's congenital amaurosis. Routine exams with an ophthalmologist and eyeglasses are standard treatment protocol for this genetic disorder. Doctors and researchers have also had some luck with gene therapy. 

Most recently doctors have been working on developing an oral medication to treat Leber's congenital amaurosis. In early tests, the majority of patients who were given the oral medication showed improved vision following use. 

Now that you know more about Leber's congenital amaurosis, you know what to look out for and what you can do if your child inherits this genetic disorder. While previously considered untreatable, strides are being made to provide treatments and give children who are affected a chance to see better and not lose their sight in the future. For more information, contact an eye doctor at Mid-America Vision Center.