The main sign of albinism is the lack of pigment in skin, eyes, and hair. Other symptoms include vision difficulties. Common signs and symptoms are [6]:

• Pink skin. However, skin color can vary from white to a brown and may even be seen as a normal hue. Skin can also change in children and teens as melanin production increases during the teenage years.
• The appearance of freckles or moles on exposed skin.
• White hair. Patients of Asian or African descent might present yellow, red, or brown hair that may darken over the years.
• Light blue to brown eyes and translucent irises. 
• Nystagmus, photophobia, astigmatism, strabismus, or extreme farsightedness or nearsightedness can be seen.

• Surgical Procedure

  For example, the use of glasses or a surgical procedure may be indicated for individuals with misalignment of the eyes, abnormal postures of the head, or involuntary eye movements. This can also help improve vision and reduce photosensitivity. [news-medical.net]

  Collected data included demographic details, preoperative examination details, surgical procedure, surgical difficulties, anatomical, and visual outcomes. Outcome measures were retinal reattachment and visual acuity at the last follow-up. [ncbi.nlm.nih.gov]

  Doctors can correct strabismus with a surgical procedure. NOTE: This is the Consumer Version. [msdmanuals.com]

  Easy bruising, epistaxis, prolonged bleeding during menstruation, after tooth extraction, and after minor surgical procedures are often reported. Platelets lack the normal number of 'dense bodies'. [disorders.eyes.arizona.edu]

• Blonde Hair

  Some patients with albinism have white hair and very light blue eyes, others have blonde hair and blue eyes, and some even have brown hair and eyes. The findings may be subtle and a person may not even know that he or she has albinism. [aapos.org]

  Symptoms of albinism Hair and skin colour People with albinism often have white or very light blonde hair, although some have brown or ginger hair. The exact colour depends on how much melanin their body produces. [nhs.uk]

  It is a genetic mutation that causes a lack of or deficiency in melanin in the body, the photo-protective pigment that protects us from the sun’s harmful ultra-violet rays, resulting in physical characteristics like white or light blond hair, violet to [pambazuka.org]

• Fair Complexion

  Dermatological Considerations Because most people with albinism have fair complexions, it’s important to avoid sun damage to the skin and eyes by taking precautions such as wearing sunscreen or sunblock, hats, sunglasses and sun-protective clothing. [albinismaustralia.org]

  Therefore, albinism should be considered in the differential of any child who presents with chronic nystagmus and a fair complexion. [reviewofophthalmology.com]

• Hypertrichosis

  Trichology[edit] Trichology specializes in diseases, which manifest with hair loss, hair abnormalities, hypertrichosis and scalp changes. [en.wikipedia.org]

• Small Hand

  AS: characteristic facies, short stature, mental retardation, spastic gait, stiff arm movements, an inappropriate outburst of laughter PWS: poor muscle tone, short stature, small hands and feet, mental retardation, hyperphagia resulting in obesity and [statpearls.com]

  Prader-Willi syndrome is a developmental syndrome with neonatal hypotonia, hyperphagia and obesity, hypogonadism, small hands and feet, and mental retardation associated with characteristic behavior. [web.archive.org]

• Osteoporosis

  It has also been described with occipital cerebral atrophy, coxa valga, and generalized osteoporosis [ 28 ]. [dermatology.cdlib.org]

• Strabismus

  If a patient is experiencing strabismus, eye patches, especially for infants, or surgery might be beneficial. Tinted glasses may be used to improve photophobia. Other recommendations concern the protection of the patient’s sensitive skin. [symptoma.com]

  It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. [ncbi.nlm.nih.gov]

  Alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP) are associated with the characteristic misrouting of the optic nerves at the chiasm. [orpha.net]

  The National Organization for Albinism and Hypopigmentation Albinism by the American Association for Pediatric Ophthalmology and Strabismus VisionAware’s Albinism and Low Vision [afb.org]

  Strabismus: Often the eyes may not work together as a binocular team. An eye may cross in or turn out. Brain Retina Connections: The pathways from the retina to brain may follow different pathways than in non-albinos. [lowvision.org]

• Photophobia

  Along with the loss of pigment, the condition can also be associated with vision problems including nystagmus, astigmatism, and photophobia. In relation to the skin, albinism is associated with various skin cancers and chronic sunburns. [symptoma.com]

  All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus. [ncbi.nlm.nih.gov]

  Refractive errors are treated with corrective glasses with tinted lenses recommended for the photophobia. Low vision aids and special education may be required. [disorders.eyes.arizona.edu]

  Vision problems like extreme far-sightedness or near-sightedness, nystagmus, strabismus, photophobia and astigmatism are common in people with albinism. [medindia.net]

• Blue Eyes

  Some patients with albinism have white hair and very light blue eyes, others have blonde hair and blue eyes, and some even have brown hair and eyes. The findings may be subtle and a person may not even know that he or she has albinism. [aapos.org]

  With its piercing blue eyes and pale skin this rare Alligator stands out like a sore thumb. Weighing over 500 pounds, 22 year old male Bouya Blan is one of only 12 white alligators in the world. [telegraph.co.uk]

  For example the 'Brown Eye Gene' is Dominant and the 'Blue Eye Gene' is Recessive. If we inherit a Brown Eye Gene from our mother and a Blue Eye Gene from our father, then we will have brown eyes. [ssc.education.ed.ac.uk]

• Esotropia

  At age 2 months, nystagmus and esotropia prompted ophthalmic evaluation. The appearance of choroidal sclerosis and atrophic retinal patches led to further evaluation at age 8 years. [ncbi.nlm.nih.gov]

  In the case of esotropia or “crossed eyes,” surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point). Surgical intervention is also available to minimize nystagmus. [albinism.org]

  In the case of esotropia or "crossed eyes," surgery may help vision by expanding the visual field, that is, the area that the eyes can see while looking a one point. Tints and sunglasses can help with light sensitivity. [verslo.is]

  Strabismus: Misaligned eyes or disconjugate gaze due to misrouted optic nerve fibers at the chiasm, for example, exotropia, esotropia, vertical misalignment Reduced stereopsis (fine depth perception) and binocular vision due to strabismus Reduced iris [statpearls.com]

• Redness of Eye

  This means that the irises can't completely block light from entering the eye. Because of this, very light-colored eyes may appear red in some lighting. [nchmd.org]

• Nystagmus

  Abstract X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. [ncbi.nlm.nih.gov]

  […] monocular occlusion all worsen nystagmus. [reviewofophthalmology.com]

  Along with the loss of pigment, the condition can also be associated with vision problems including nystagmus, astigmatism, and photophobia. In relation to the skin, albinism is associated with various skin cancers and chronic sunburns. [symptoma.com]

  Will the nystagmus lessen with age? Generally, the nystagmus does dampen or reduce with time, especially after age 5-8 years. [visionofchildren.org]

  Major clinical symptoms 1, 2 : Hypopigmentation of iris and iris translucency Hypopigmentation of skin Hypopigmented hair Vision problems (reduced sharpness, nystagmus and photophobia) Increased risk of melanoma on long-term sun exposure Presence of the [centogene.com]

• Confusion

  People with albinism are legally blind because photoreceptors (cells in the retina that detect light) get oversaturated with light and send confusing messages to the brain. [scientificamerican.com]

  Molecular genetic testing is necessary to obtain a definitive diagnosis, as some OCA1B patients have a certain degree of phenotypical variation which may lead to confusion in distinguishing it from other OCAs. [orpha.net]

  Mild forms of albinism are underdiagnosed and confused with other forms of early-onset, infantile nystagmus. 4. Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. [ncbi.nlm.nih.gov]

  The little girl was confused about why her mother had to take her on this sudden trip. Her mother left her at a temporary holding shelter in Mitindo, almost 70 kilometers away from her home. [hrw.org]

• Clumsiness

  […] eyes move involuntarily from side to side, causing reduced vision; you don't see the world as "wobbling" because your brain adapts to your eye movement squint – where the eyes point in different directions Some young children with albinism may appear clumsy [nhs.uk]

• Agitation

  De Telegraaf newspaper quoted eyewitnesses as saying that the man had been pacing about in an agitated state before tying something to a railing and then jumping off. [khbpoint.blogspot.com]

After a physical examination coupled with a description of pigmentation changes, and familial comparisons, albinism can usually be diagnosed [7]. The physical exam will also be paired with an eye exam. A genetic test is necessary in order to confirm albinism and detect which specific subtype of the condition is present. 

There is no cure for albinism, only management measures that a patient is recommended to follow [9]. A patient experiencing vision problems may be prescribed glasses, bifocals, or other vision aids. If a patient is experiencing strabismus, eye patches, especially for infants, or surgery might be beneficial. Tinted glasses may be used to improve photophobia. 

Other recommendations concern the protection of the patient’s sensitive skin. Wearing a hat while in the sun, using sunblock on exposed skin, or wearing long sleeves and pants is recommended. 

While albinism has no effect on a patient’s lifespan, it can limit their activities. Due to the sensitive nature of the skin, daily activities in normal sunlight might prove to be difficult without some layer of protection. Sunlight or other bright lights might affect vision due to the eyes’ sensitivity.

• The cause of albinism type OCA 1 and AROA, lies in a defective enzyme called tyrosinase. This enzyme contains copper and is involved in the production of melanin and other pigments from tyrosine by oxidation [2]. The tyrosinase enzyme is encoded by the TYR gene with the gene location 11q14-21. 
• Mutations in tyrosinase-related protein 1 (TRP1), coded on chromosome 9 cause OCA 3. 
• Mutation to the P gene, enconding for P protein which plays a role in regulating the pH of melanosomes, causes OCA 2.

Albinism can affect people from all ethnic backgrounds. According to reports, it occurs in about one person out of 17,000 people worldwide. A patient’s lifespan is not affected by albinism as there is no link between the condition and mortality [3]. In general, a person’s health will remain normal aside from the associated conditions. 

A congenital hypopigmentation within the systemic and ocular tissues is present [4]. Cellular pigmentation relies on the individual cell’s capability to manufacture as well as isolate the melanin pigment. This process happens inside organelles known as melanosomes. These are found in the melanocyte cells of the iris’s stroma, the ciliary body, choroid pigments, the skin, the conjunctive of the eye, and the hair. Melanin is synthesised through tyrosine inside of the melanosome.

Tyrosinase plays a dominant role in albinism and affected individuals are therefore classified as being tyrosinase-positive or tyrosinase-negative depending on the results of a hair bulb test or an electron microscopy of the skin or hair. In both cases, there is usually an autosomal recessive inheritance pattern detected. If a patient is found to be tyrosinase-negative, the enzyme is considered to be inactive. This stops the cell from using the enzyme in order to produce melanin pigment. In the opposite case, the activity level of the tyrosinase enzyme is actually normal, but the cell is unable to synthesize the melanin due to defects in other enzymes involved in the pathway.

This is a genetic condition so prevention is not possible. If patients are concerned about passing down the trait to their children, they are able to seek genetic counselling for help [10].

Albinism is a group of inherited disorders characterized by a deficit in the production of melanin with deficiency or absence of pigment. The disorder is also known as achromia, achromatosis, or achromasia [1]. The condition is classified in two forms, ocular albinism (OA) and oculocutaneous albinism (OCA), which are divided into several subtypes based on the location of the genetic mutation, (OCA 1, OCA 2, OCA 3) and (OA1, AROA).

Along with the loss of pigment, the condition can also be associated with vision problems including nystagmus, astigmatism, and photophobia. In relation to the skin, albinism is associated with various skin cancers and chronic sunburns.

Albinism is an inherited condition distinguishable by the absence of melanin pigment in the patient. This pigment is responsible for the color of a person’s hair, eyes, and skin. The condition is usually accompanied by a sensitivity to the sun and is linked to an increased risk of various skin problems including skin cancer. Vision problems are also associated with albinism.

Albinism can affect people from all ethnic background. It is genetic and can’t be caused by outside influences.

There is no cure for albinism, but there are a number of things that a person can do to manage the condition. Using protective layers including sunscreen and loose clothes is recommended to protect sensitive skin. Eyeglasses can be prescribed for vision problems and sunglasses are recommended when outdoors.

Some people may also experience nonmedical issues due to their albinism. This can include social isolation and discrimination. These issues can be handled with the help of a therapist or other counsellor who can help a patient work through these social problems.

1. Summers CG. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci. Jun 2009;86(6):659-62. 
2. Schiaffino MV, Tacchetti C. The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. Pigment Cell Res. Aug 2005;18(4):227-33.
3. Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV. The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. Pigment Cell Res. Apr 2006;19(2):125-35.
4. Wang T, Waters CT, Jakins T, et al. Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. Br J Ophthalmol. Oct 2005;89(10):1383-4.
5. Ramsay M, Colman MA, Stevens G, et al. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet. Oct 1992;51(4):879-84. 
6. Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Current Opinion in Hematology 2008 15 (1): 22–29.
7. Kruijt B et al. Ocular straylight in albinism. Optom Vis Sc 2011;88:E585-E592
8. Carden SM, Boissy RE, Schoettker PJ, Good WV. Albinism: modern molecular diagnosis. The British Journal of Ophthalmology 1998 82 (2): 189–95.
9. Gronskov K, Ek J, Brondum-Nielsen K (2 November 2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases 2: 43.
10. Lee J. Surgical management of nystagmus. Journal of the Royal Society of Medicine 2002 95 (5): 238–41.