Última actualización:
August 18, 2015
Años publicados: 1985, 1989, 1992, 1994, 1999, 2007, 2008, 2012, 2015
NORD gratefully acknowledges William S. Oetting, PhD, School of Pharmacy, Department of Experimental and Clinical Pharmacology and College of Biological Sciences, Department of Genetics, Cell Biology and Development, University of Minnesota, for assistance in the preparation of this report.
Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes. Absent or insufficient melanin pigment results in abnormal development of the eyes, resulting in vision abnormalities, and light skin that is very susceptible to damage from the sun including skin cancer. Visual changes include nystagmus (involuntary side to side eye movement), strabismus and photophobia (sensitivity to light). Other changes include foveal hypoplasia (which affects visual acuity) and mis-routing of the optic nerves. All individuals with OCA have the above visual changes but the amount of skin, hair and iris pigment can vary depending on the gene (or type of OCA) and mutation involved.
There are seven types of OCA (OCA1-7) caused by mutations in seven different genes. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition.
Several vision problems can occur with this condition including an involuntary movement of eyes back and forth (nystagmus), reduced iris pigment (iris transillumination), reduced retinal pigment, lack of development of the macula (macular hypoplasia) resulting in abnormal foveal development (the area of the eye responsible for visual acuity), poor visual acuity, and abnormal connections in the nerves from the retina to the brain that prevents the eyes from tracking together (strabismus) and reduces depth perception. Visual acuity in individuals can range from 20/60 to 20/400, usually depending on the amount of pigment present in the eye. Vision acuity is usually better in those individuals with greater amounts of pigment.
Oculocutaneous albinism type 2 (OCA2) is associated with the same vision problems that occur in OCA1. Individuals with OCA2 have a wide range of skin pigmentation that is partially dependent on their genetic background and the mutations present. Hair color is usually not completely white and there can be some pigment present in the skin but skin color is usually lighter than in unaffected relatives. Individuals with extensive sun exposure can develop pigmented nevi and lentigines. This does not occur with other types of OCA. A reduction in skin pigment is apparent in Africans and African-Americans but skin coloration appears close to normal in other populations with normally lighter pigmentation but affected individuals do not tan. Brown OCA is a type of OCA2 where hair and skin coloration is darker. This type of OCA2 has only been reported in individuals with African ancestry. OCA2 is associated with mutations in the OCA2 gene, formerly called the P gene.
Oculocutaneous albinism type 3 (OCA3) was initially described in the African population. Affected individuals have red to reddish-brown skin, ginger or reddish hair, and hazel or brown eyes and the condition was initially termed rufous albinism. OCA3 has now been identified in several additional populations especially of Asian descent including Chinese and Japanese, as well as in Asian Indian and Northern European individuals. Affected individuals of Asian heritage can have blond hair with light brown eyebrows with skin lighter than their parents. Both hair and skin pigmentation increases with age. Vision problems are not as severe as OCA1 or OCA2. Nystagmus and photophobia may not be present. OCA3 is associated with mutations in the tyrosinase related protein 1 (TYRP1) gene.
Oculocutaneous albinism type 4 (OCA4) is characterized by physical features that are similar to those of OCA2. Hair color of affected individuals can range from yellow to brown. Visual acuity can range from 20/30 to 20/400 depending on the amount of pigment that is present, but acuity is usually in the range of 20/100 to 20/200. Vision is usually stable after childhood. OCA4 was initially identified in an individual of Turkish origin and has been found in Asian populations including Japanese and Korean and German individuals, OCA4 is associated with mutations in the SLC45A2 gene (formerly called MATP), a membrane-associated transport protein.
Melanin pigment is the major pigment responsible for coloration of skin, hair and eyes. There are two types of melanin pigment, brown-black eumelanin and yellow-red pheomelanin. All melanin pigment is a combination of these two types of pigment. Melanin pigment is produced in specialized cells called melanocytes. Mutations in genes responsible for the proteins that are necessary for the melanocyte to make melanin pigment result in a reduction or absence of melanin pigment in the skin, hair and eyes of the affected individual and this condition is termed oculocutaneous albinism (OCA). OCA is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits an abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
Seven genes have been identified that are associated with different types of OCA. Each of these genes is important in the production of melanin pigment that takes place in cells called melanocytes that are located in the skin, hair follicle, iris and retina of the eye. In the case of skin and hair pigmentation, the melanocyte transfers the melanin pigment to the keratinocyte, the cell that is responsible for skin and hair. Pigment in the eye is produced in the iris and in the retinal pigment epithelium.
Different Types of Oculocutaneous Albinism
Oculocutaneous Albinism Type I (OCA1)
Oculocutaneous albinism type 1 (OCA1) is associated with reduced production of melanin in the skin, hair and eyes. There are two types of OCA1. Individuals affected with OCA1A have a complete absence of melanin pigment resulting in white hair and white skin at birth and irises that do not become darker over time. Visual acuity in individuals can range from 20/200 to 20/400. Individuals with OCA1B have white or light yellow hair at birth that can darken over time, white skin that darkens over time and irises that may change from light blue to green or brown over time. Vision is usually better in individuals with OCA1B than in those with OCA1A.
OCA1 is associated with abnormalities (mutations) in the tyrosinase (TYR) gene. The TYR gene is responsible for the production of the enzyme tyrosinase which is the key enzyme in the formation of melanin pigment. Some TYR mutations result in the production of a completely nonfunctioning tyrosinase enzyme and no melanin pigment is formed. This results in OCA1A. Different TYR mutations result in the production of a tyrosinase enzyme with limited enzymatic activity but it is still able to produce small amounts of melanin pigment. This type of OCA1 is called OCA1B. In the case of OCA1B, melanin pigment will accumulate with time in the skin, hair and eyes.
Oculocutaneous Albinism Type II (OCA2)
Oculocutaneous albinism type II (OCA2) is associated with the same vision problems that occur in OCA1. Individuals with OCA2 have a wide range of skin pigmentation that is partially dependent on their genetic background of the affected individual and the mutations present. Hair color is usually not completely white and there can be some pigment present in the skin but skin color is usually lighter than in unaffected relatives. Individuals with extensive sun exposure can develop pigmented nevi and lentigines (dark spots on the skin). This does not occur with other types of OCA. A reduction in skin pigment is apparent in Africans and African-Americans but skin coloration appears close to normal in other populations with normally lighter skin pigmentation but affected individuals do not tan. Brown OCA is a type of OCA2 where hair and skin coloration is darker. This type of OCA2 has only been reported in individuals with African ancestry.
OCA2 is associated with mutations in the OCA2 gene (also called the P gene). The OCA2 gene is responsible for production of the OCA2 protein. The precise function of the OCA2 protein is unknown, but it is thought to be important in regulating the movement of the substrate tyrosine into the melanosome as well as regulating the internal environment of the melanosome.
Oculocutaneous Albinism Type III (OCA3)
Oculocutaneous albinism type III (OCA3) was initially described in the African population. Affected individuals have red to reddish-brown skin, ginger or reddish hair, and hazel or brown eyes and the condition was initially termed rufous albinism. OCA3 has now been identified in several additional populations including those of Asian descent (Chinese and Japanese), Asian Indian and Northern European. Affected individuals of Asian heritage can have blond hair with light brown eyebrows with skin lighter than their parents. Both hair and skin pigmentation increases with age. Reduction in visual acuity is not as severe as in OCA1 or OCA2. Nystagmus and photophobia may not be present.
OCA3 is associated with mutations in the tyrosinase related protein 1 (TYRP1) gene. This gene is responsible for the production of tyrosinase-related protein-1, an enzyme like tyrosinase, which is involved in the production of melanin. The TYRP1 enzyme is part of a gene family that includes tyrosinase and the tyrosinase related protein-2 (TYRP2), all of which are enzymes involved in melanin biosynthesis. The TYRP1 enzyme is responsible for later steps (after the initial tyrosinase step) in melanin pigment production.
Oculocutaneous Albinism Type IV (OCA4)
Oculocutaneous albinism type IV (OCA4) is characterized by physical features that are similar to those of OCA2. Hair color of affected individuals can range from yellow to brown. Visual acuity can range from 20/30 to 20/400 depending on the amount of pigment that is present, but acuity is usually in the range of 20/100 to 20/200. OCA4 was initially identified in an individual of Turkish origin and has been also found in Asian populations including Japanese and Korean and German individuals.
OCA4 is associated with mutations in the SLC45A2 gene (also called the membrane-associated transporter protein; MATP). The SLC45A2 gene is responsible for the production of a membrane associated transporter protein formed with 12 transmembrane helices. The precise function of this protein is unknown but it is required for the normal production of melanin by the melanocyte.
Oculocutaneous Albinism Type V (OCA5)
Oculocutaneous albinism type V (OCA5) has been found in only one family in Pakistan. Affected individuals have golden colored hair, white skin and the same visual problems that occur in OCA1. Visual acuity in this family was 6/60.
The gene responsible for OCA5 has been located on chromosome 4 (4q24). 14 genes are in this location, but the specific causative gene for OCA5 has not yet been determined.
Oculocutaneous Albinism Type VI (OCA6)
Oculocutaneous albinism type VI (OCA6) is characterized as having golden to light to dark brown hair, white skin and brownish irides and has been classified as autosomal recessive ocular albinism (AROA), though individuals are hypopigmented when compared to their parents. Only a few individuals have been identified with this type of albinism and all of the clinical features of OCA6 have not been determined but it is assumed that the reduction in visual acuity will not be as severe as seen in OCA1.
OCA6 is associated with mutations in the SLC24A5 gene. The SLC24A5 gene is responsible for the production of a membrane associated transporter protein. The precise function of this protein is unknown but it belongs to a family of potassium-dependent sodium/calcium exchangers. It may be involved in the maturation of melanosomes.
Oculocutaneous Albinism Type VII (OCA7)
Oculocutaneous albinism type 7 (OCA7) is characterized with blond to dark brown hair and skin which is more hypopigmented than parents. Individuals had nystagmus and iris transillumination. Visual acuity ranges from 6/18 to 3/60.
OCA7 is associated with mutations in C10orf11. The isoform 1 open reading frame encodes a 226 amino acid protein containing a leucine-rich repeat. The function of the protein is unknown but is thought to play a role in melanocyte differentiation.
Mutations and Oculocutaneous Albinism
Most mutations described associated with OCA have been single base substitutions that result in either amino acid substitutions, RNA splicing abnormalities or premature stop codons (nonsense or frameshift mutations). New evidence has shown that larger deletions and chromosome rearrangements are also important mechanisms for mutating genes associated with OCA. Deletions or duplications are thought to account for over 5% of mutations associated with OCA.
It is important to note that all individuals carry 4-5 abnormal genes among the 30,000 or so genes that we have. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.Four genes have been identified that are associated with different types of OCA. Each of these genes is important in the production of melanin that takes place in cells called melanocytes that are located in the skin, hair follicle and iris and retina of the eye. In the case of skin and hair pigmentation, the melanocyte transfers the melanin pigment to the keritinocyte and make up skin and hair.
OCA1 is associated with abnormalities (mutations) in the tyrosinase (TYR) gene. The TYR gene is responsible for the production of the enzyme tyrosinase which is responsible for the first step in the formation of melanin pigment. Some TYR mutations result in the production of a nonfunctioning tyrosinase enzyme and no melanin pigment is formed. This type of OCA1 is called OCA type 1A (OCA1A). Other TYR mutations result in the production of a tyrosinase enzyme with reduced function so that a reduced amount of melanin pigment is formed. This type of OCA1 is called OCA type 1B (OCA1B). In the case of OCA1B, melanin pigment will accumulate with time.
OCA2 is associated with mutations in the OCA2 gene (also called the P gene). The OCA2 gene is responsible for production of the OCA2 protein. The precise function of the OCA2 protein is unknown, but it is thought to be important in regulating the movement of the substrate tyrosine into the melanosome as well as regulating the internal environment of the melanosome.
OCA3 is associated with mutations in the tyrosinase related protein 1 (TYRP1) gene. This gene is responsible for the production of tyrosinase-related protein-1, an enzyme, like tyrosinase, that is involved in the production of melanin. The TYRP1 enzyme is part of a gene family that includes tyrosinase and the tyrosinase related protein-2 (TYRP2), all of which are enzymes involved in melanin biosynthesis. The TYRP1 enzyme is responsible for later steps (after the initial tyrosinase step) in melanin pigment production.
OCA4 is associated with mutations in the SLC45A2 gene (also called the MATP). The SLC45A2 gene is responsible for the production of this membrane associated transporter protein. The precise function of this protein is unknown but it is required for the normal production of melanin by the melanocyte.
It is important to note that all individuals carry 4-5 abnormal genes among the 30,000 or so genes that we have. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
The frequency of OCA1 is approximately 1/40,000 in the world population. Most of the individuals identified with OCA1 have OCA type 1A. The frequency of OCA type 1B is unknown.
The prevalence of OCA2 in some African populations can be as high as 1/1,500-1/8,000. The prevalence in the African American population has been estimated to be as high as 1/10,000.
The frequency of OCA is approximately 1:17,000. This can vary between different populations depending on the type of OCA and the population being studied.
The frequency of OCA1 is approximately 1/40,000 in the world population but this can vary in different populations. For example, the population frequency in Northern Ireland is estimated to be 1/10,000. Most of the individuals identified with OCA1 have OCA type 1A. The frequency of OCA type 1B is unknown.
The prevalence of OCA2 in some African populations can be as high as 1/1,500-1/8,000. The prevalence in the African American population has been estimated to be as high as 1/10,000. The prevalence of OCA2 in most other populations is approximately 1/38,000-1/40,000.
The prevalence of OCA3 is not known. Individuals with OCA3 have so far been identified in several populations including Asian, Turkish and Northern European.
The prevalence of OCA4 is approximately 1/100,000 in most world populations. OCA4 is most common in Japan but has also been found in Northern European, Indian and Moroccan populations.
The prevalence of OCA5 is unknown. OCA5 has only been reported in one family.
The prevalence of OCA6 is unknown. OCA6 has only been reported in two individuals, one in China and a second in India.
The prevalence of OCA7 is unknown. OCA7 has been reported in several individuals from the Faroe Islands, Denmark, where all were homozygous for the same mutation, a nonsense mutation (p.Arg194*). An additional individual from Lithuania was homozygous for a different mutation (c.66dupC) in the same gene.
It is important to note that common changes in the DNA sequence within these four genes are also associated with normal variation in skin, hair and eye color.
Though physical appearance can help in diagnosing the correct type of albinism, DNA sequencing of the seven responsible genes is required to accurately determine which type of OCA is present.
In the case of affected individuals with African ancestry, testing for the 2.7 kb exon deletion within the OCA2 gene is necessary.
Treatment
Individuals diagnosed with OCA should be evaluated by an ophthalmologist at the time of diagnosis to determine the extent of the disease and have ongoing ophthalmologic examinations annually. Glasses or contact lenses can improve vision. Additionally, visual acuity can improve with age, so regular visits to the ophthalmologist are necessary. Dark glasses or a hat with a wide brim can help to reduce sun sensitivity (photophobia). Affected individuals should also be evaluated to determine the amount of pigment in the skin. Skin should be protected from sun exposure with the use of clothing and sun block to reduce the risk of sunburn, skin damage and skin cancer. Specific recommendations for skin care depend on the pigment status.
Research using animal model systems is now being done to test the effect of different interventions to reduce the effects of albinism on the visual system. Studies in mice have shown that Nitisinone can improve abnormalities of the eye and coat color associated with albinism. Human trials are ongoing to determine the effect of Levodopa/carbidopa (L-DOPA) or Lutein plus Zeaxanthin on their ability to improve vision in individuals with albinism.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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INTERNET
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