Albinism: for patients


Overview

Albinism is an inherited condition that affects approximately 1 in 5,000 to 1 in 17,000 people. It is caused by mutations in one of 18 genes that leads to reduced or no production of melanin, a pigment which determines the colour of our skin, hair, and eyes. As a result, patients tend to present with lighter skin tone and hair colour (compared to family members), very light-coloured iris, sensitivity to sun exposure (get sunburnt easily) and increased risk of developing skin cancer. As melanin is also crucial in the development of various structures in the eye, including the neural connections to the brain, individuals affected by albinism usually have poor vision, nystagmus and light sensitivity (photophobia). However, the severity of these symptoms is highly variable, and some may have relatively good vision with minimal or no nystagmus.

There are diffuse redness around the iris when light is shone at the eye. This is because the reflex of the retina is able to shone through the iris due to a lack of pigment.
The iris of a patient with albinism. The lack of pigmentation in the iris resulting in the reflex of the retina (red reflex) illuminating through when light is shone at the eye.

Albinism can be divided into two groups:

  • Oculocutaneous Albinism (OCA) – This is the more common form of albinism with varying degrees of eyes, skin and hair involvement
  • Ocular Albinism (OA) – The lack of melanin production is only limited to the eyes; skin tone and hair colour are usually of expected pigmentation when compared to other family members

Although there is no treatment currently, individuals affected by it can take several steps to optimise their vision and reduce the risk of skin cancer development.

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The condition

Symptoms

1) Abnormal visual behaviour

Most parents of children with albinism usually notice the following features from birth or shortly after which may prompt them to seek medical attention:

  • Infantile nystagmus– rapid, involuntary eye movements that usually move horizontally; children usually have blurred vision and issues with depth perception as a result of the eye movements but they DO NOT see the world moving
  • Poor vision due to multiple factors (nystagmus, under-development of the fovea or foveal hypoplasia, abnormal development of the nerve fibres connecting the eye and the brain, reduced depth perception, difficulty focusing an image which require glasses to correct)
  • Sensitivity to bright light (photophobia)
  • Strabismus/squint (abnormal alignment of the eyes when looking at an object)

It is important to note that visual symptoms experienced by children with albinism are highly variable, and visual function does not tend to deteriorate over time.

2) Amblyopia (“lazy eye”)

When a baby is born, their eyes and brain work together to build a visual pathway that allows the brain to process visual information collected from the eyes. Most of the visual pathway develops up to the age of 8 years though further changes can be observed into adulthood.[1] For this pathway to develop normally, the eyes need to constantly send clear images to stimulate the brain. Any malfunction of the structures along this pathway will result in amblyopia. Vision in the “lazy eye” may be permanently reduced if not detected and treated in time.

3) Abnormal head posture

Some children may adopt a compensatory head posture to optimise their vision. The adopted head position is usually where the eye movements are at their slowest and finest (medically known as the null point). The head postures vary among patients.

4) Abnormal pigmentation of the skin, hair and eyes

The colour of the skin, hair and iris (or lack of) are highly variable among individuals depending on the gene responsible and the extent of melanin deficiency. For example, individuals with mutations in the TYR gene (resulting in the absence of melanin production) typically have pale white skin, blonde hair and minimal pigment in the iris, while those with OCA2 mutations will have mild to moderate skin pigmentation. Others may have pale skin and blonde hair initially but become darker over time due to some residual melanin production.[2]

5) Increased risk of skin cancer

Melanin is crucial in protecting our skin from harmful ultraviolet (UV) rays radiated from the sun. As a result, individuals with oculocutaneous albinism (OCA) are at higher risk of developing skin cancer. Therefore, appropriate measures must be taken when going outdoors such as using sun block, long sleeved clothing and wearing caps or hats with a wide brim.

6) Other symptoms

Some children with OCA may also have other systemic features forming a syndrome. Two of the notable ones are:

  • Hermansky-Pudlak syndrome— characterised by albinism, easy bruising and prolonged bleeding due to problems with blood clotting, scarring of the lungs leading to breathing problems and less commonly inflammation of the large bowels (granulomatous colitis)
  • Chediak-Higashi syndrome—characterised by a weakened immune system leading to recurrent infections from a young age, albinism, easy bruising and sometimes neurological symptoms such as muscle weakness and imbalance

Cause

Oculocutaneous albinism is caused by changes in 18 genes coding for proteins that help with melanin production and transport of melanosomes (a structure in the cell that synthesise, store and transport melanin). As a result, there is little or no pigment present in the skin, hair, and eyes, as well as poor vision due to the abnormal development of the structures in the eye. Ocular albinism differs from oculocutaneous albinism as it has minimal skin and hair involvement and is caused by mutations in a single gene called GPR143, which is involved in a pathway that controls the growth and maturation of melanosomes. Individuals affected by ocular albinism tend to be males as genetic changes in the GPR143 gene is inherited in an X-linked recessive manner.

The severity of the various symptoms associated with albinism is dependent on the extent of melanin deficiency.

How is it diagnosed?

All babies in the UK are screened for eye and other physical problems in the first 72 hours after birth as part of the newborn screening programme. Babies are then checked again between 6 and 8 weeks of age. The lighter skin tone and hair colour, along with nystagmus can be detected during these examinations and babies are then referred to a paediatrician and an ophthalmologist for further assessment.

During the clinic appointment, eye drops that dilate the pupils are applied so that the eye professional can test whether glasses are required and also examine the health of the retina and optic disc. In addition, the ophthalmologist will also use a specialised camera called optical coherence tomography (OCT) and an electro-diagnostic test called visual evoked potentials, or VEPs to help with diagnosis. The OCT is used to detect the presence of foveal hypoplasia while the VEP test is to help determine if there is any abnormal development of the nerve fibres connecting the eye to the brain. These tests are performed routinely for children presenting with nystagmus and the presence of these features is suggestive of albinism.

Sometimes, the ophthalmologist may also want to examine the parents as well even though they may be unaware of any visual problems. This is because either parent may have a very mild condition which does not affect his/her vision.

Genetic testing should be undertaken to confirm the diagnosis by identifying mutations in one of the 18 genes associated with albinism. Referral to a paediatrician and other relevant specialists may be indicated for children with features suggestive of Hermansky-Pudlak syndrome (easy bleeding/bruising) or Chediak-Higashi syndrome (recurrent infections), or guided by the results of genetic testing.

How is it inherited?

1) Autosomal recessive inheritance

Genetic changes associated with OCA are inherited in this manner. This means that two copies of the faulty gene are required (one from each parent) to cause the condition. Both parents are usually unaffected carriers (only have one faulty copy of the gene) while the affected child inherits one faulty copy of the gene from each parent. This means that every newborn of the parents has the following risks regardless of gender:

  • 25% chance of being affected by OCA
  • 25% chance of being unaffected and not a carrier
  • 50% chance of being a carrier with no symptoms
If the mother has 1 copy of the faulty gene in her X chromosome (a carrier) while the father is unaffected, there is 50% chance that a daughter is a carrier and a 50% chance that a son is affected by the condition.
Autosomal recessive inheritance

2) X-linked recessive inheritance

Ocular albinism is inherited in this manner.

If the father is affected and the mother is healthy:

  • None of the sons will be affected
  • All daughters will be carriers
If a mother has 1 copy of the faulty gene in her X chromosome (a carrier) while the father is unaffected, there is 50% chance that a daughter is a carrier and a 50% chance that a son is affected by the condition.
X-linked recessive inheritance

If the father is healthy and the mother is a carrier:

  • Each son has a 50% chance of being affected
  • Each daughter has a 50% chance of being a carrier

As albinism is a hereditary condition, families may choose to see a genetic counsellor to obtain more information and advice on inheritance and family planning options.

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Treatment

Is there any treatment?

There is currently no treatment available for the underlying genetic changes causing albinism. Patients are usually managed supportively by a team consisting of different specialists, focusing on alleviating the associated symptoms and optimising quality of life.

In general, children affected by albinism may have the following treatments to optimise their vision:

  • Glasses/ contact lenses – to help sharpen the vision
  • Tinted glasses—to help reduce light sensitivity
  • Eye drops – to help reduce the eye movement due to nystagmus
  • Occlusion therapy for amblyopia– the stronger eye is usually patched for several hours every day so that the weaker eye can be stimulated

Treatment with medications such as gabapentin or memantine have been shown to improve vision by reducing the extent of nystagmus[3,4], but data of their usage in children is lacking.[5]

Does my child require surgery?

Not in many cases. Surgery is usually only undertaken if a child is adopting an extreme head posture to optimise vision as this can lead to severe discomfort in the neck, shoulder and upper back. These issues may cause problems later on with posture if not addressed. Surgery does not correct the nystagmus but aims to re-align the position of the gaze so that the child is at a more comfortable position to make use of the null point. The procedure is done under general anaesthesia, which means the child will be unconscious during the operation.

What are the possible complications after surgery?

The following complications may occur after surgery:

  • Double vision (diplopia)
  • Eye infection (rare)
  • Further corrections of the gaze may occasionally be required

Other considerations

Due to the increased risk of developing skin cancer, affected individuals should ensure the following:

  • Wear adequate skin protection from sun exposure such as using sun block, long sleeved clothing and wearing caps or hats with a wide brim.
  • Have an annual examination with a doctor to look for lesions suggestive of skin cancer

In addition to paediatricians and eye doctors, other medical professionals such as haematologists, respiratory doctors and/or gastroenterologists are usually involved in the care of patients affected by Hermansky-Pudlak and Chediak-Higashi syndromes so that detailed assessment and treatment can be started as soon as possible.

Furthermore, visual impairment can have a negative impact on a child’s early general development.Therefore, timely referral to practitioners familiar with developmental surveillance and intervention for children with visual impairment (VI), such as developmental paediatricians as well as a Qualified Teacher of children and young people with Visual Impairment (QTVI) is crucial to optimise their developmental potential.

The Developmental Journal for babies and young children with visual impairment (DJVI) is a structured early intervention programme designed to track developmental and vision progress in children from birth to three years of age. It is mainly used by qualified healthcare professionals working in services providing support to babies and young children with VI in conjunction with the child’s parents. Children with VI may be referred to specialist services such as the developmental vision clinic in the Great Ormond Street Hospital for Children or other specialist developmental services for further management.

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Current research in Albinism

1) Nitisinone

Nitisinone is a medication approved by the US Food and Drug Administration(FDA) for the treatment of type 1 tyrosinemia. It causes an increase in blood tyrosine concentration as a by-product of its mechanism, which may be used as treatment for albinism. Tyrosine is a crucial protein in melanin production.

Experiments on a mouse model showed that ingestion of nitisinone orally resulted in increased fur and iris pigmentation.[6] Development subsequently progressed into a phase 1/2 pilot study where 5 adult patients with albinism were treated with a daily dose of oral nitisinone for a year. Although there was no significant change in iris pigmentation, which was the primary outcome of the study, an increase in hair and skin pigmentation were observed. Patients also experienced some improvement in their vision although the sample size is too small to draw any concrete conclusions.

2) Levodopa

Levodopa is another crucial protein involved in the production of melanin in the body. Despite evidence from animal studies[7,8] suggesting that levodopa supplementation may improve retinal development and therefore visual function, OCA patients enrolled in a phase 1/2 trial did not experience significant improvement in their visual function.[8]

Related links

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Practical advice

Living with albinism

Visual function among patients is highly variable, but the majority still have some degree of vision. Patients are still able to lead a relatively independent life through maximising their available vision and having access to social support. Here are some ideas:

  • Attending the low vision clinic which provides access to low vision specialists, Eye Clinic Liaison Officers (ECLOs) and visual aids
  • Utilising assistive technologies that can improve quality of life
  • Noticing your child’s preferential head position when looking at objects can help you to understand where you should hold toys or position yourself as this is often where your child finds to have the best vision (the null point)
  • Getting in touch with the local education authority for access to qualified teachers for children with visual impairment (QTVI) and special educational needs co-ordinator (SENCO)
  • Registering your child as sight impaired (SI) or severely sight impaired (SSI) if eligible for access to social support and financial concessions
  • Getting in touch with national or local charities for advice and peer support

Related links

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Referral to a specialist centre

If you are based in the UK and would like to be seen in the nearest specialist centre for your eye condition, either to receive a more comprehensive genetic management or just to find out more about current research, you can approach your GP to make a referral or alternatively arrange for a private appointment. 

More information can be found in our “How to see a genetic eye specialist?” page.

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Further information and support

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A patient’s perspective

Patients and families affected by nystagmus sharing their experience

Credit: Nystagmus Network

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References

  1.  Martins Rosa A, Silva MF, Ferreira S, Murta J, Castelo-Branco M. Plasticity in the human visual cortex: an ophthalmology-based perspective. Biomed Res Int. 2013;2013:568354. doi:10.1155/2013/568354
  2.  Federico JR, Krishnamurthy K. Albinism. StatPearls. StatPearls Publishing Copyright © 2020, StatPearls Publishing LLC.; 2020
  3.  Shery T, Proudlock FA, Sarvananthan N, McLean RJ, Gottlob I. The effects of gabapentin and memantine in acquired and congenital nystagmus: a retrospective study. Br J Ophthalmol. Jul 2006;90(7):839-43. doi:10.1136/bjo.2005.086322
  4.  Sarvananthan N, Proudlock FA, Choudhuri I, Dua H, Gottlob I. Pharmacologic Treatment of Congenital Nystagmus. Archives of Ophthalmology. 2006;124(6):916-918. doi:10.1001/archopht.124.6.916
  5.  McLean R, Proudlock F, Thomas S, Degg C, Gottlob I. Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. Ann Neurol. Feb 2007;61(2):130-8. doi:10.1002/ana.21065
  6.  Onojafe IF, Adams DR, Simeonov DR, et al. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J Clin Invest. Oct 2011;121(10):3914-23. doi:10.1172/jci59372
  7.  Roffler-Tarlov S, Liu JH, Naumova EN, Bernal-Ayala MM, Mason CA. L-Dopa and the albino riddle: content of L-Dopa in the developing retina of pigmented and albino mice. PLoS One. 2013;8(3):e57184. doi:10.1371/journal.pone.0057184
  8.  Summers CG, Connett JE, Holleschau AM, et al. Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial. Clin Exp Ophthalmol. Nov 2014;42(8):713-21. doi:10.1111/ceo.12325

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Updated on November 30, 2020
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