Leber Congenital Amaurosis

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What Is Leber Congenital Amaurosis?

Leber congenital amaurosis is an inherited condition, characterized by a lack of activity in the retina (light-sensitive nerve tissue lining the back of the eyes); a baby will be born blind or develop severe vision loss soon after birth. Infants and children with Leber congenital amaurosis frequently also have increased sensitivity to light (photophobia), nystagmus (involuntary darting of the eyes), and farsightedness (hyperopia).

How Is Leber Congenital Amaurosis Diagnosed?

Parents will notice a lack of eye contact and visual responsiveness and will have their child assessed by an ophthalmologist. The ophthalmologist will note that the retina is essentially inactive. A diagnosis of Leber Congenital Amaurosis (LCA) will be given.

Are There Treatments for Leber Congenital Amaurosis?

At present, there is no treatment for this condition. However, scientists have identified the specific mutated genes causing most cases of LCA. You can read about the current clinical trials of gene replacement therapy here on the Foundation Fighting Blindness site.

How Would You Describe the Eyesight of One with Leber Congenital Amaurosis and How Will My Child Function with It?

Your child’s Teacher of Students with Visual Impairments should perform a Functional Vision Assessment to determine how your child uses remaining vision, and a Learning Media Assessment to determine which senses your child primarily uses to get information from the environment. These assessments, along with an Orientation and Mobility Assessment conducted by a mobility specialist, will give the team information needed to make specific recommendations for your child to best access learning material and his or her environment.

You may learn your child has difficulty recognizing faces and facial expressions, accessing near and detailed information, or travelling safely. If this is the case, your child may benefit from travel training from the mobility specialist, increased contrast of the environment, increased room and task lighting, and utilizing assistive technology to more easily write, read, use the computer, and access information; and learning techniques and additional accommodations to perform activities with limited vision.

Your child may also be taught to complete tasks without use of vision. Your child may be taught braille, use of screen reading software to use the computer, and other techniques for performing life skills and academic tasks from the Teacher of Students With Visual Impairments.

Furthermore, your child may have discomfort and poorer vision in bright light, as well as difficulty seeing in dimly lit environments. Daytime travel, recreation, or work will be aided with use of sunglasses and hats. Evening travel may be aided by the use of an infrared night scope.

Resources for Families of Children with Leber Congenital Amaurosis

  • Lighthouse Guild for the Blind offers a free National Tele-Support Network for Parents of Children with Visual Impairment to connect you with parents whose children also have Leber congenital amaurosis, so you can share resources, experiences, strength, and hope. The tele-support groups meet by phone every week, and are facilitated by a psychologist or social worker with input from professionals knowledgeable about children’s eye conditions. For more information or to enroll in a tele-support group, call 800-562-6265 or write to parentgroups@lighthouseguild.org.
  • Leber Congenital Amaurosis by Genetics Home Reference
  • Leber Congenital Amaurosis by the Foundation Fighting Blindness
  • Leber Congenital Amaurosis by the Genetic and Rare Diseases Information Center
  • Leber’s Congenital Amaurosis (LCA) FAQ by Wonderbaby

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