Alana has Oculocutaneous Albinism Type 1A (OCA1A). That means that she has no active Tyrosinase enzyme the therefore is unable to make any melanin, which affects her skin, hair and eyes.
As a result of her eyes not having melanin, Alana has foveal hypoplasia, optic nerve hypoplasia, nystagmus and photophobia. Her vision is expected to be in the 'legally blind' range of less than 6/60 but officially has 'low vision'. This might sound a huge disability but she will probably have extremely good contrast sensitivity which will help her see and accomplish a lot more than you would expect.
At this stage she does not have any refractive error that require corrective lenses but that can change as her eyes grow and she gets older.
As her vision continues to develop over her early years and until she is able to tell us exactly what she can see and take more accurate vision test, we will not know exactly how well she will see for a few years yet.
Alana's eyes are a beautiful light blue but can appear lilac or even pink if in brightly lit conditions, this is due to transillumination. In direct, bright light, such as flash photography, Alana's eyes can appear very pink or even glowing red (in photos mainly).
Alana's hair appears pure white in colour but is actually clear, it has no pigment but is seen as white. When wet her hair goes somewhat invisible.
Her skin is white and does not tan with UV exposure.
Other than the above, Alana is a normal, healthy, happy little girl. She is very bright, alert, determined, a quick learner and delight to be around.
We expect there to be many challenges ahead for her as she learns to cope with her visual impairment but know that to us she is perfect and that we love and admire her and her amazing spirit.
Contrast Sensitivity is the ability to see the difference between shades of colours. If a person has contrast sensitivity they are able to perform various activities that you would normally think that a person with their degree of visual impairment should not be able to do e.g. riding a bike, downhill snow-skiing, and in some parts of the world possibly even driving a car with the use of a Bioptic lens. Contrast Sensitivity provides functional vision which has nothing to do with vision used for Binary functions such as reading and recognising faces. Most, although not all, people with albinism have very good, and sometimes close to normal, Contrast Sensitivity.
Underdevelopment of the central retina. The fovea (almost in the center of the macula, which is responsible for our central vision) gives us our sharpest vision. This is the vision that is used to read or recognize faces. It is not known why, but the fovea does not develop normally in a person affected with albinism. The fovea houses the cones of the retina. It is like a pit and resembles a small pale spot, about the size of a pinhead. If this delicate is destroyed we become blind.
Rhythmic, involuntary eye movements. The brain controls this action in an effort to bring vision better into focus.
|Optic Nerve Hypoplasia:|
The optic nerve is the pathway from the eyes to the brain. The optic nerve in an eye unaffected by albinism is almost even. In the eye of a person affected by albinism they are not close to even. Therefore neurologically the brain in a person with albinism receives data differently. This results in a lack of stereovision. Stereovision is the ability to see 3-dimentionally. Each eye views the same object from the different angles and then the images are put together to create the image that you see.
Photophobia is an extreme sensitivity to light. Light enters the eyes through the iris as well as the pupil so light enters in from every angle, this is called 'Shatter'. Much like the feeling you get when you leave a movie theatre and walk into the bright light outside. After a few moments your eyes adjust to the bright light. If you have albinism your eyes simply don't adjust and that is painful. It is the same for both natural and artificial light.
|Transillumination simply means that the eyes appear red or glowing when light enters into them. This is due to a lack of pigmentation which allows the reflection of the light off of the reddish retina in the back of the eye.|