Albinism
Albinism is an inherited difference in metabolism in which the body makes very little melanin, or none.
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Albinism is an inherited difference in metabolism in which the body makes very little melanin, or none. Melanin gives colour to skin, hair and eyes and — less widely known — takes part in building the retina before birth. So albinism is not only about a pale appearance: it almost always affects vision, and in daily life that is what matters most. It is not catching, it lasts a lifetime, it does not progress on its own, and it has no effect on intelligence or life expectancy. It is rare: in Europe it affects roughly one person in 17,000 to 20,000, and considerably more in a number of African countries.
How it shows on the outside
The range is wide and depends on which gene is involved and how much pigment is still produced.
- hair may be snow white, straw-coloured, very fair, and sometimes reddish or even brown;
- skin is very pale, burns easily and hardly tans; freckles and moles on it look faint and barely marked;
- the iris is usually blue-grey or light brown rather than the red of popular belief; a reddish glint shows up against the light because vessels shine through a weakly pigmented iris;
- in some people the shortage of pigment is confined almost entirely to the eyes, while skin and hair look no different from the rest of the family, so the condition goes unrecognised for years.
Hair and skin sometimes darken a little with age. That is normal and does not mean the diagnosis was wrong.
The eyes: the heart of the matter
Without melanin the fovea — the part of the retina that delivers the sharpest vision — never fully forms. On top of that, some nerve fibres take an unusual route from eye to brain, so the brain is less able to fuse the two pictures into one with depth. Hence a set of features found in almost everyone with the condition:
- reduced sharpness of vision that glasses cannot bring up to full: the limit is not the lens strength but the way the retina itself is built;
- nystagmus, an involuntary side-to-side movement of the eyes; the world does not appear to wobble, because the brain adjusts to that movement;
- light sensitivity: light comes in through the pupil and also through a weakly pigmented iris, so outdoors the eyes screw up and water;
- short sight, long sight and, particularly often, marked astigmatism;
- a squint, and poor judgement of distance and depth.
Side vision, on the other hand, is normally intact and the visual field is full; in many children the nystagmus softens over the years. Adults with albinism read, study, work and use technology — with aids, but independently. Small children can seem clumsy because picking something up first time is hard: that is the eyes rather than coordination, and it evens out as they grow.
How albinism is passed on
There are several forms and they are inherited in different ways. In the commonest, which involves skin, hair and eyes, the mechanism is recessive: a child has to receive the altered gene from both parents. The parents themselves usually stand out in no way at all — they are carriers and do not know it. For a carrier couple the chance of a child with albinism is one in four in every pregnancy, and it does not work as a queue: earlier births have no bearing on later ones.
The form that affects mainly the eyes is more often linked to the X chromosome. Boys in the family then show it, while girls who inherit the same gene usually remain carriers with mild eye signs that only an eye examination picks up.
If someone in the family already has albinism, or a couple is planning a child, it is worth seeing a genetics service: they will work through the family tree, explain the odds and advise which tests are worth doing.
Rare forms that must not be missed
As a rule albinism involves nothing beyond skin and sight. But there are uncommon variants in which it comes together with damage to other organs, and those need to be recognised early.
In one of them albinism is joined by a tendency to bleed: large bruises after minor knocks, frequent nosebleeds, prolonged bleeding after a tooth is taken out, heavy periods, blood loss in childbirth. In time, some of these people develop scarring of lung tissue with increasing breathlessness, and persistent inflammation of the bowel. Anyone with this combination must avoid aspirin and painkillers of the anti-inflammatory group, which make clotting harder still, and must warn the surgeon, the dentist and the maternity team in advance.
In another rare variant albinism goes with severe repeated infections in the first years of life, easy bleeding and neurological problems. That combination calls for urgent assessment by haematology and immunology: untreated, it is life-threatening.
So it is worth raising with a doctor anything that has nothing to do with the eyes or the skin: unexplained bruises, bleeding, frequent severe infections, persistent diarrhoea, breathlessness.
How it is confirmed
Most often albinism is obvious at birth from the colour of hair, skin and eyes. But appearance alone is not enough: in a very fair family a baby may not stand out, and then it is the eyes that lead to the diagnosis. The eye specialist examines the iris against the light, the back of the eye and the fovea, and assesses the nystagmus and visual acuity. The structure of the retina is clarified by optical coherence tomography. Sometimes electrodes are placed on the head to record the brain's response to visual signals, which shows whether the nerve pathways run the usual course. Where needed, genetic testing is arranged: it pins down the form and helps make sure those rare variants are not missed.
What helps with seeing and learning
Pigment cannot be restored, but far more can be made of the available vision than people expect.
- glasses or contact lenses with a precise correction of astigmatism, revised as the child grows;
- tinted or photochromic lenses, a peaked cap or a wide-brimmed hat for light sensitivity;
- magnifiers, electronic magnifiers and a monocular for reading a board or a display at a distance;
- large type, strong contrast, screen magnification and text read aloud;
- at school: a seat near the board, a personal copy of handouts, extra time for written work, and light that does not shine into the face;
- where a squint or nystagmus is pronounced, surgery on the eye muscles is sometimes discussed: it does not restore sharpness, but it improves head posture and appearance.
Many children hold the head turned or tilted, because in that position the nystagmus settles and they see more clearly. There is no need to correct the posture — it is a useful adaptation.
Sun and skin
Skin without melanin is defenceless against ultraviolet, and years of accumulated sun turn into pre-cancerous change and skin cancer, sometimes in young people. Here prevention counts for more than any treatment: high-factor sunscreen every day, not just at the beach; close-woven long sleeves, a brimmed hat, sunglasses with ultraviolet protection; shade in the middle of the day; no sunbeds.
Check the skin once a month, not forgetting ears, lips, neck and the backs of the hands, and make an appointment if a new spot or lump appears, if a sore has not healed in over a month, or if something long-standing starts to grow, change colour or bleed. A skin tumour caught early is treated simply and with a good outcome; a neglected one is not. With albinism a yearly review with a dermatologist is sensible even when nothing is troubling you.
Online consultation: what it can do
Examining the back of the eye and testing for glasses have to be done in person, but a great deal else can be settled by video. A doctor can go through the reports from the eye specialist and from genetics, explain what the names of the forms and the acuity figures mean, and help you frame the questions for them. The odds for future children, the choice of sun protection and what adjustments to ask for at school can all be discussed online. Warning signs are a subject of their own: showing a photograph of a new mark on the skin, or describing the bruising and bleeding, to work out whether investigation is needed and how urgently.
This material is for information only and does not replace medical advice.
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