Albinism Eye

Melanin is important in the production of pigment throughout the body, including in the formation and development of the eye and the optic nerves. In albinism the lack of, or reduced melanin production as the eye structures and optic nerves develop in utero, result in changes that cannot be corrected and can be recognised as evidence of albinism at diagnosis. The extent of changes vary depending on a complex set of circumstances, including but not limited to the type of albinism, genes affected, combination of genes and the amount of melanin produced (if any). Everyone is different.

Information in this section comes under the following headings:

  • Albinism eye conditions
  • Measured vision versus functional vision
  • Variations in functional vision
  • Effects of sunlight
  • Nystagmus
  • Supporting functional vision
  • Resources

Albinism eye conditions

Changes in eye structure consistent with an albinism diagnosis

  • Reduced or lack of melanin in the retina: The resulting lack of pigment inside the eye means that stray light is not absorbed. It can lead to light sensitivity and the red reflex that is sometimes noticeable as a violet hued iris in people with albinism. This not only interferes with vision, but can also cause severe pain.
  • Foveal hypoplasia: The fovea is a tiny pit located in the back of the eye, part of the retina. Hypo means deficient, low, or under. Plasia means development, growth. Therefore this defines the underdevelopment of the fovea, which generally starts at around the 25th week of pregnancy and continues until the child is 1-4 years old. It results in a decreased ability to process visual input and reduced visual acuity.
    • Why does this matter? The foveal pit is where the densest concentration of cones in the eye work together to give the clearest, most focused vision. Reading, determining depth, and visually distinguishing minor differences are all affected by the lack of a foveal pit.
  • Reduced or lack of melanin in the iris: The amount of pigment in the iris determines its colour. Less pigment results in a lighter coloured iris. Most people with albinism have blue eyes, but some have violet, green, grey or light brown eyes.
  • Optic nerve misrouting: The nerve signals from the retina to the brain do not follow the usual nerve routes. Because of this directional misrouting / abnormality, the primary visual cortex (in the brain) receives some normal imput but also abnormal input, resulting in visual impairments. It can result in a lack of depth perception and lack of binocular vision.

Other eye conditions also frequently seen in albinism

Those with albinism frequently also experience the following conditions which are not limited to people with albinism. However not everyone with albinism will experience these – some will have none, some a few and others all of them, to varying degrees.

  • Nystagmus: You will notice involuntary horizontal or vertical back and forth movement of the eyes, sometimes slow, sometimes jerky. It may also be pendular or rotary. This may result in eye fatigue or make changes in focus or to focus on a moving object dificult.
  • Strabismus: This is a muscle inbalance of the eye where one or both eyes appear “turned” or “crossed” (sometimes called lazy eye). The eyes may turn in (esotropia), or out (exotropia). 
  • Photophobia: This is sensitivity to bright light and glare. Different people have different levels of photophobia, from negligible to extreme, which may get worse with age. In albinism, this is related to the lack of pigment in  the retina and macula area at the back of the eye and the scatter of reflected light within the eye rather than excess light entering the eye. The lack of pigment in the iris area at the front of the eye may also add to this.
  • Refractive Errors: Most people wear glasses due to a refractive error.
    • People with albinism may be either far-sighted (hyperopia) or near-sighted (myopia). This may affect one or both eyes.
    • They usually also have astigmatism, which can be common in the general population, as a result of the lens or cornea (or both) of the eye not being perfectly curved.

Treatment or Rehabilitation

For the most part, treatment consists of visual rehabilitation with glasses and aids. Strabismus may be treated with patching (the stronger eye) and if uncorrected, can lead to amblyopia, or the loss of some vision function in the weaker eye. Below are further corrections that are available, but are dependent on the severity of the issue.

Surgery is available on the optic muscles to minimise  nystagmus or to correct strabismus and may make the conditions less noticeable. Surgical intervention for nystagmus may have a beneficial effect on vision; each person and their presentation is different. Strabismus surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).

However, surgery cannot correct the misrouting of nerves from the eyes to the brain, nor the pigment issues of the retina, so surgery will not improve eyesight or fine binocular vision.

Sensitivity to glare is very common in people with albinism but this does not mean they prefer to be in the dark; they need light to see just like anyone else. Different types of lighting inside may affect photophobia, ie fluoro, LED, etc. and it is important to place lights for reading or close work over a shoulder or to the side, rather than in front, and seating in front of windows or glass can also affect glare intake. Sunglasses or tinted contact lenses may help outdoors; usually sunglasses with a polarised lens cut more glare, and a wraparound style is less likely to allow bright light / glare into the eye area.

Various optical aids are helpful to people with albinism, including glasses, reading (or computer) glasses, bifocals, contact lenses or glasses with a small telescopic lens attached (bioptic). The choice of an optical / vision aid depends on how a person uses their eyes and vision daily in jobs, hobbies, sport etc. Some people manage using bifocals that have a strong reading lens, prescription reading glasses or contact lenses, tinted or otherwise. Others prefer to use handheld magnifiers or monoculars (small handheld telescopes), and some prefer to use screen magnification products on computers.

Work with your vision specialist to determine what works for you, your vision and your own situation.

The above information has been shared with permission from NOAH (US Organisation). Find out more at www.albinism.org.

  • Basic facts of Albinism Vision (pdf) by Dr Brian Evans, a British friend of our Australian group who passed away a few years ago. This is included here with permission of his family.
  • Albinism – an opthalmologist’s perspective (pdf) by Dr James Elder, a presentation at our 2017 Conference. This has excellent explanations of structures in albinism. Note that since this was prepared, a total of 21 albinism genes have been identified, including other OA genes that are not not X related and appear in women.
  • Refractive error and astigmatism explained: This video is a good visual explanation of short and long sightedness and astigmatism.

Measured vision versus functional vision

Having vision measured / taken in the optometrist’s or ophthalmologist’s rooms calculates what the eye can see in stable, stationary, usually calm and quiet conditions.

The best measurement possible in the better eye (often corrected, with use of glasses) is used in determining eligibility for things like driving licences, support at school, disability pensions and government transport or taxi scheme funding. While this gives a base level to recognise the vision impairment, those with albinism, even the same typing, are not all the same and vary greatly in how the vision operates. It can be conditional to the day, time, and varying personal or environmental conditions.

A visual acuity measure (ie how well you see) is measured on a scale of 6 in Australia (20 in the US). This is the distance you are placed away from the test chart – Australia 6 metres, US 20 feet (the same distance, just not metric!). “Perfect” vision would be read as 6/6, meaning that from 6 metres away, the person reads what should be readable from 6 metres away.

A reading of 6/18 means the person being tested reads at 6 metres what a “perfectly” sighted person reads at 18m. Accordingly, 6/60, which is the recognised acuity reading for placing a person in the “legally blind” category, means the person sees clearly at 6 metres what a “perfectly” sighted person sees at 60 m away.

Note: 6/18 is usually the starting measurement for receiving education support in school and the cut off for gaining a driving licence in most states. (Check your state’s rules).

Functional vision is how well we see in varying conditions, or how things influence how well we see in our daily lives (not in the perfect, stable, clinical conditions of a consultation room). It looks at how our vision is affected by our regular tasks, and is particularly important in schools and work places, where the day is structured, to consider how to accommodate functional vision for different times and conditions.

Functional vision is often considered as to how we track, focus, use our eyes together, and use our visual processing skills. All of these are affected to a degree by albinism. Nystagmus, glare, head tilt, posture, tiredness, overuse of vision, anxiety and time of day all play a part in the affected on our functional vision at any given time, and none of these are measurable in the visual acuity test.

When applying for NDIS or Work Place Modifications (Job Access), the measured vision is not as critical. You need to determine what you need to achieve your goals or work tasks, using your functional vision, so even though the measurement from the consult is used as a base level to understand visual acuity, as we have seen, other factors come in to play.

Variations in functional vision

Variations in the structure of the eye, or how much pigment is produced in the retina and iris, will influence how well you see and can explain some of the functional vision differences between individuals who have the same clinical measurement. Those with greater misrouting of the optic nerves or more strabismus, will often have problems with binocular vision and depth perception, further exacerbated in poor lighting (too dark or too bright).

The ability to take breaks, wear a cap, etc affect our daily functional vision. Vision often reduces later in the day when you are tired, have been exposed to glare, reading or doing fine work without a break and the eyes fatigue. Vision issues also increase with lack of sleep or illness.

Effects of Sunlight

The albinism retina does not absorb light due to the lack of (or reduced) pigment. Light that enters the eye scatters around, generally causing difficulties with glare in those with albinism. The result can be a visual “white out” (as when you look directly into the sun) and temporary blindness, but also severe pain.

The pupil closes down in bright light, reducing the amount of light reaching the retina, protecting the eye; but when the iris also lacks pigment, some light can enter this way increasing the problem. With long-term exposure to the sun without sunglasses, the UV rays entering the eye can cause permanent damage. It is therefore important to make sure sunglasses are rated as blocking both UVA and UVB rays, even on cloudy days.

Nystagmus

Nystagmus will also affect functional vision to varying degrees, depending on the eye movement – some have greater range or speed of movement than others. This will also vary within the one individual, usually being more exaggerated or faster when they are ill, physically tired, stressed, have eye strain after reading for a time or simply because it is the end of a long day trying to focus. The eyes tire more easily with nystagmus and it takes longer to focus on an object as the eyes search for the perfect position, therefore making it difficult to focus when the eyes are moving, or are fixed on a moving object.

Having short breaks during an activity requiring concentrated vision, or changing activities regularly can help prevent eye fatigue and strain.

  • Nystagmus presentation (pdf) by Marion Blaze (SVRC) for teachers (also useful for parents).
  • Nystagmus The Way We See It features BBC TV presenter Richard Osman (UK) , and some students with albinism, talking about how nystagmus affects them (at school, university, employment, driving, sport and being the parent of a child with nystagmus).
  • Nystagmus Professional Perspectives features Ophthalmologists and those with nystagmus, filmed in Cardiff University’s School of Optometry and Vision Sciences.

Supporting functional vision

Less than perfect conditions can affect all those with albinism, but small adjustments can help to improve vision. Wearing prescription glasses can assist some people with vision and reduce eye fatigue. Outdoors wearing hats and sunglasses, seeking deep shade (as opposed to dappled shade), having darkest legal tint on car windows, keeping your back to the sun and trying to avoid being outside between 10am and 2pm (11 and 3 DST) can all improve functional vision.

When indoors, knowing which type of lighting suits you (yellow or white lights, fluorescent or not), wearing a peaked cap or having blinds and matt surfaces to reduce glare, sitting with your back to windows while also ensuring it is not too dark, will improve your functional vision.

Using a slope board for reading will allow you to sit with correct posture, avoiding tired muscles and long-term damage to neck or back. For children, reading homework is often more easily done first thing in the morning when eyes are not fatigued and in the workplace it helps to alternate close work with other activities to avoid eyestrain and fatigue. Many with albinism recommend the 20/20/20 rule to avoid fatigue when reading or using close vision for extended periods – every 20 minutes, look 20 metres away for 20 seconds.

When you consider the effects of reduced acuity (sharpness of vision), significant nystagmus, photophobia and lack of depth perception of those with albinism, you can understand why driving a car or playing or watching fast, small ball sports are very difficult to undertake.

Young children can usually play most games, developing fitness and basic skills. While movement is possibly slower, as they get older and games are faster and more competitive, they can opt for a more individual physical activity like athletics, dance, martial arts or fitness training. Many teens and adults with albinism successfully ride bikes or play large ball sports with support of team members and specially devised tactics on the field.