F.A.Q.

Frequently asked questions:

What can Eleanor see?

Right now, we’re not certain; this includes her physicians. Based upon the results of an ERG which tested how much light is perceived by her retinas, we know that Eleanor takes in light at levels far below individuals with typical vision. Aside from this, much of what we know is based on our experiences of watching Eleanor respond to things visually.

What we are certain Eleanor can see:
light – she can perceive light and where it is coming from
formshe can see shape and large objects well enough to navigate around furniture and reach out for things, but she does not see fine details such as facial features, textures, details of pictures in books, or printed text, etc.
contrastwe do not know if she perceives color, but she does seem to be more aware of things that are high-contrast (black on white OR yellow on dark blue, etc.)
peripherally– she tends to look out of the sides of her eyes rather than centrally due to the fact that her “rods” layer in her retina is slightly better than her “cones.” Read more about that HERE

What is Eleanor’s condition?

This March, after 5 months of waiting, we received our genetic test results from the Carver Lab. Our ophthalmologist was finally able to give us an official diagnosis of Leber Congenital Amaurosis caused by a mutated gene: CEP290. Leber Congenital Amaurosis is a rare genetic retinal disease that causes blindness at birth. Read about Leber Congenital Amaurosis HERE.

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Can it be fixed?

As you might have noticed, Eleanor often wears glasses. She is far-sighted in addition to her retinal blindness, but other than perhaps making things slightly less blurred, the (sun)glasses function mostly as a barrier to her eye-pressing and to harsh light, as Eleanor seems to be especially sensitive to bright light.

As of now, there is no “cure” for retinal blindness, but “scientists have identified 14 genes with mutations that can each cause LCA.  These genes account for approximately 75 percent of all cases of LCA. With this information, scientists are better equipped to develop preventions and treatments.

Clinical trials of gene replacement therapy for LCA caused by mutations in the RPE65 are now underway at Children’s Hospital of Philadelphia, Universities of Pennsylvania and Florida, and Moorfields Eye Hospital at the University College of London. Children and young adults who were nearly blind have had dramatic improvements in their vision after treatment.” (1)

Is she visually impaired or is she blind?

She is both.

Visually Impaired: A person is considered visually impaired when, with best correction, he or she has difficulty reading a newspaper, is unable to see objects with peripheral vision, among many other indicators.

Legally blind: This is defined as no better than 20/200 corrected vision in the better eye, or a visual field not extending beyond 20 degrees in the better eye, or a visual efficiency of no more than 20 percent. The “legal” refers to a determination of the person’s eligibility for government benefits resulting from his or her visual impairment.

Blindness: A wide array of conditions ranging from a limited ability to see objects with special aids to the absence of light perception. Most people who are blind have some light perception. (2)

The term “blindness” does not necessarily mean that a person cannot see anything at all. A person who is considered blind may very well be able to see light, shapes, colors, and objects (albeit indistinctly). Having such residual vision can be a valuable asset for the person in learning, movement, and life. (3)

How do children with blindness learn?

Children with visual impairments can certainly learn and do learn well, but they lack the easy access to visual learning that sighted children have. The enormous amount of learning that takes place via vision (90%!) must now be achieved using other senses and methods.

Hands are a primary information-gathering tool for children with visual impairments. So are the senses of smell, touch, taste, and hearing. Until the child holds the “thing” to be learned and explores its dimensions—let us say, a stuffed animal, a dog, a salt shaker, or a CD player —he or she cannot grasp its details. That is why sensory learning is so powerful for children with visual impairment and why they need to have as many opportunities as possible to experience objects directly and sensorially.

Families, friends, and others can support sensorial learning in many ways.
“Do you smell dinner?” appeals to the child’s sense of smell.
“Listen to that bird singing outside” calls to the child’s hearing. “That’s a robin” gives the child a name for the bird that sings the song he or she is hearing.
“Isn’t the bunny soft? And feel how long his ears are!” speaks to the child’s sense of touch and helps the child build a picture of the “whole” from the many details.

Being able to see enables us to capture the “whole” of an object immediately. This isn’t so for children with a visual impairment. They cannot see the “whole,” they have to work from the details up to build an understanding of the whole. (3)

How do you (initially) interact with a visually impaired child?

Speak in a calm voice, introduce yourself by saying your name, then touch her hand to say “hello!” Then, proceed as you would with any other child. And as always, as with all children, be patient, and open minded!

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6 comments

  1. Pingback: Eleanor’s Eyes | eleanor's in-sight

  2. Jane McCreadie

    Hi Brian and Sarah, I too have a beautiful daughter called Eleanor who was diagnosed with LCA at about 6 months old. She is now 10 years old so we are some way down the line. I don’t want to give you “advice” because you are already doing everything right, just believe in yourselves and in Ellie’s ability. Treat her like any other normal little girl encourage her to be whatever she wants to be. Jane x

    • Sarah M.

      Thank you so very much for your words of encouragement! They mean so much. How interesting that your little girl is name Eleanor, too! So glad to hear about your experience — would love to hear more. 🙂

  3. Very nice information easy to understand .I have 2.5 year old girl called mera she’s the same as you described your lovely daughter eleanore she see light and dark she do navigate well .we dont know how much she can see .she has gucy2d gene.hoping for treatment .

  4. Great post! I have a 7 year old daughter with LCA – the RDH12 gene affected. We have been on this journey for 5 years now! Jane – I would love to hear more about your girl as well – especially since she is 10 and just diagnosed a few months ago – that is rare!

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