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Oculocutaneous Albinism Type 4

Synonym: OCA4

, MD, PhD and , MD, PhD.

Author Information
, MD, PhD
Department of Dermatology
School of Medicine
Yamagata University
Yamagata, Japan
, MD, PhD
Department of Dermatology
School of Medicine
Yamagata University
Yamagata, Japan

Initial Posting: ; Last Revision: September 15, 2011.

Summary

Disease characteristics. Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the skin and hair plus the characteristic ocular changes found in all other types of albinism, including nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP). Individuals with OCA4 are usually recognized within the first year of life because of hypopigmentation of the hair and skin and the ocular features of nystagmus and strabismus. Vision is likely to be stable after early childhood. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Newborns with OCA4 usually have some pigment in their hair, with color ranging from silvery white to light yellow. Hair color may darken with time, but does not vary significantly from childhood to adulthood. This form of albinism is rarer than OCA2, except in the Japanese population.

Diagnosis/testing. Because OCA2 and OCA4 are phenotypically similar, it is not possible to accurately diagnose OCA4 based on clinical findings alone. SLC45A2 (previously called MATP and AIM1) is the only gene in which mutation is known to cause OCA4.

Management. Treatment of manifestations: Correction of refractive errors with spectacles or contact lenses to improve visual acuity. Dark glasses may alleviate photophobia but may reduce vision; a hat with a brim or visor best achieves reduction in photophobia. Strabismus surgery may be considered for cosmetic reasons.

Prevention of secondary complications: Protective clothing and sunscreens prevent sunburn and secondary skin changes.

Surveillance: Annual ophthalmologic examination and reassessment for accurate correction of refractive error.

Agents/circumstances to avoid: Excessive exposure to sun.

Genetic counseling. OCA4 is inherited in an autosomal recessive manner. The parents of a proband are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family have been identified.

Diagnosis

Clinical Diagnosis

The diagnosis of oculocutaneous albinism type 4 (OCA4) is established by presence of the following features:

  • Hypopigmentation of the skin and hair varying from complete depigmentation to partial depigmentation with brown hair. In some individuals pigmentation increases during the first decade of life [Suzuki & Tomita 2008].
  • Characteristic ocular changes found in all types of albinism, including the following findings detected on routine ophthalmologic examination:
    • Nystagmus
    • Reduced iris pigment with iris translucency
    • Reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination
    • Foveal hypoplasia associated with reduction in visual acuity
  • Misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP)

    Note: (1) A VEP is not necessary for the routine diagnosis of albinism; misrouting is implied by the finding of strabismus and reduced stereoscopic vision. (2) In some individuals, particularly those who have moderate amounts of cutaneous and retinal pigment, or those who have foveal hypoplasia and no obvious nystagmus, a VEP may be necessary to demonstrate misrouting of the optic nerves. (3) The VEP is performed with a technique specifically developed for demonstration of the misrouting and a regular VEP will not demonstrate this. (4) Normal routing of the optic nerves, demonstrated with a VEP, indicates that the diagnosis is not albinism/OCA.

Molecular Genetic Testing

Gene. SLC45A2 (previously called MATP and AIM1) is the only gene in which mutations are known to cause oculocutaneous albinism type 4 (OCA4).

Clinical testing

Table 1. Summary of Molecular Genetic Testing Used in Oculocutaneous Albinism Type 4

Gene SymbolTest MethodMutations DetectedMutation Detection Frequency by Test Method 1
SLC45A2Sequence analysisSequence variants 2Unknown
Deletion / duplication analysis 3Exonic or whole-gene deletions

1. The ability of the test method used to detect a mutation that is present in the indicated gene

2. Mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected.

3. Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted chromosomal microarray analysis (gene/segment-specific) may be used. A full chromosomal microarray analysis that detects deletions/duplications across the genome may also include this gene/segment.

Interpretation of test results. For issues to consider in interpretation of sequence analysis results, click here.

Testing Strategy

To confirm/establish the diagnosis in a proband. The diagnosis of OCA4 is suspected in an individual based on cutaneous and ophthalmologic findings and confirmed using molecular genetic testing, first using sequence analysis. If neither or only one mutation in SLC45A2 is identified, deletion/duplication analysis may be considered.

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutations in the family.

Note: Carriers are heterozygotes for an autosomal recessive disorder and are not at risk of developing the disorder.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutations in the family.

Clinical Description

Natural History

A wide range of clinical phenotypes has been recognized to date [Suzuki & Tomita 2008]. The amount of cutaneous pigmentation in OCA4 is a continuum from minimal to near normal [Newton et al 2001, Inagaki et al 2004, Rundshagen et al 2004, Ikinciogullari et al 2005, Inagaki et al 2005]. The amount of iris and retinal pigment varies and visual acuity covers a wide range; however, no subtypes of OCA4 are recognized.

Individuals with albinism (including OCA4) are usually recognized within the first year of life because of the ocular features of nystagmus and strabismus. In many families, particularly in those with darker constitutional pigmentation, the cutaneous hypopigmentation is also obvious at birth and suggests the diagnosis.

Eye. Some children with albinism have nystagmus that is noticed by the parents and the examining physician in the delivery room. Many children with albinism do not have nystagmus at birth and the parents note slow wandering eye movements and a lack of visual attention. The parents may become concerned because the child does not seem to "focus well," but the absence of nystagmus may delay the diagnosis. Most children with albinism develop nystagmus by age three to four months, and the diagnosis is often considered at the four-to-six month well-baby checkup. The nystagmus can be rapid early in life and generally slows with time; however, nearly all individuals with albinism have nystagmus throughout their lives. Nystagmus is more noticeable when individuals are tired, angry, or anxious, and less marked when they are well-rested and feeling well [Summers 2009].

Iris color ranges from blue to brown. In one individual with OCA4, who had been misdiagnosed at birth as having OCA1 because of complete iris transillumination, the amount of iris pigment increased in the first ten years, resulting in blue iris color [Suzuki et al 2005].

Visual acuity in individuals with OCA4 ranges from 20/30 to 20/400 and is usually in the range of 20/100 to 20/200 [Rundshagen et al 2004, Suzuki et al 2005]. Vision is likely to be stable after early childhood and no major change or further reduction in vision should occur. The visual changes are likely not progressive, and loss of vision later in life should not be related to the albinism.

Skin/hair. The range of skin pigment in individuals with OCA4 is broad [Newton et al 2001, Inagaki et al 2004, Rundshagen et al 2004, Ikinciogullari et al 2005, Inagaki et al 2005]. Individuals with OCA4 are often born with some pigment in their hair that ranges in color from silvery white to light yellow. Scalp hair may be very light, but it is usually not completely white (not as white as a sheet of copy paper or fresh snow); some parents may refer to light yellow/blond hair color as "white" or "nearly white" if it is very lightly pigmented or is much lighter than the hair color of other family members at a similar age. Furthermore, the definition of "white" scalp hair is not easy in some young children because the hair may be sparse and short and because some shampoos discolor hair. It is helpful to hold a piece of white paper next to the hair to determine if it is truly white. Hair color may darken with time, but usually the hair color does not change dramatically between childhood and adulthood [Inagaki et al 2004].

When hair color is blond or yellow, the skin is usually creamy white with little or no pigmentation. Skin color in individuals with OCA4 is not usually as white as that in individuals with the OCA1A subtype of oculocutaneous albinism type 1, reflecting the fact that skin melanocytes in individuals with OCA4 can still synthesize some melanin; however, the majority of the melanin is yellow pheomelanin rather than black-brown eumelanin.

Skin cancer risk. Over many years, exposure of lightly pigmented skin to the sun can result in coarse, rough, thickened skin (pachydermia), solar keratoses (premalignant lesions), and skin cancer. Both basal cell carcinoma and squamous cell carcinoma can develop. Melanoma is usually rare in individuals with OCA, even though skin melanocytes are present [Ihn et al 1993].

Skin cancer is unusual in individuals with OCA4 in the US because of the availability of sunscreens, the social acceptability of wearing clothes that cover most of the exposed skin, and the fact that individuals with albinism often do not spend a great deal of time outside in the sun. Skin cancer in an individual with any type of OCA is very rare in northern areas of the US. Skin cancer in individuals with albinism is common in some parts of the world such as sub-Saharan Africa because of the increased amount of sun exposure throughout the year, the cultural differences in protective dress, and the lack of skin-protective agents such as sunscreens [Okoro 1975].

Genotype-Phenotype Correlations

The lack of a functional assay for the SLC45A2 protein and the limited data from SLC45A2 molecular genetic testing make genotype-phenotype correlations difficult [Newton et al 2001, Rundshagen et al 2004, Ikinciogullari et al 2005, Inagaki et al 2005, Konno et al 2009].

In Japanese individuals, two frequent mutant alleles, p.Asp157Asn and p.Gly188Val, have been reported. The p.Asp157Asn allele may have very low functional activity in melanogenesis; p.Gly188Val may have some residual functional activity [Inagaki et al 2004].

The degree of cutaneous pigmentation, ocular pigmentation, and visual development resulting from particular SLC45A2 mutations cannot be predicted at this time.

Nomenclature

The ocular features of all types of oculocutaneous albinism (OCA) and X-linked ocular albinism (OA1) are similar and the terms "oculocutaneous albinism" and "albinism" can be used interchangeably when referring to these clinical features.

Prevalence

Prevalence of OCA4 is thought to be on the order of 1:100,000 in most populations throughout the world. It is likely to be more common in Japan, where it accounts for 24% of individuals with OCA [Inagaki et al 2004, Inagaki et al 2005].

OCA4 has also been described in individuals of German, Turkish, Korean, Indian, Chinese, Danish, and Moroccan descent [Newton et al 2001, Rundshagen et al 2004, Ikinciogullari et al 2005, Suzuki et al 2005, Sengupta et al 2007, Gronskov et al 2009, Konno et al 2009].

Differential Diagnosis

Albinism. Most types of albinism are associated with the development of some cutaneous pigmentation. The differential diagnosis of albinism with pigmentation of the skin and hair includes the OCA1B subtype of oculocutaneous albinism type 1; oculocutaneous albinism type 2 (OCA2); oculocutaneous albinism type 3 (OCA3); Hermansky-Pudlak syndrome (HPS); and X-linked ocular albinism (OA1).

Other. Although individuals with red skin and light hair have been described in Papua, New Guinea, the association of this phenotype with OCA3 found in Africa is unknown. Affected individuals in Papua, New Guinea have nystagmus and reduced visual acuity, but the retina is normally pigmented and foveal hypoplasia is not present [Hornabrook et al 1980]. Molecular studies of this phenotype are not available.

The existence of another autosomal gene associated with either ocular albinism or oculocutaneous albinism has not been substantiated, although families with OCA that do not map to the loci for TYR (OCA1), OCA2, TYRP1 (OCA3), or SLC45A2 (OCA4) have been reported.

Congenital motor nystagmus. Congenital motor nystagmus presents with nystagmus associated with reduced visual acuity. Some individuals with congenital motor nystagmus have been reported to have retinal hypopigmentation and foveal abnormalities; however, these studies were done before the molecular basis of OCA was understood, suggesting that individuals with OCA may have been included incorrectly. The visual evoked potential analysis to evaluate misrouting of the optic nerves is normal in congenital motor nystagmus.

Note to clinicians: For a patient-specific ‘simultaneous consult’ related to this disorder, go to Image SimulConsult.jpg, an interactive diagnostic decision support software tool that provides differential diagnoses based on patient findings (registration or institutional access required).

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with oculocutaneous albinism type 4 (OCA4), the following evaluations are recommended:

  • Complete ophthalmologic evaluation including measurement of visual acuity and refractive error
  • Assessment for strabismus

Treatment of Manifestations

Ophthalmologic care is the most important part of the ongoing care for most individuals with OCA4.

The majority of individuals with albinism have significant hyperopia or myopia and astigmatism. Correction of these refractive errors with spectacles or contact lenses can improve visual acuity. Except in the very unusual individual, correction of refractive errors cannot restore visual acuity to normal because of the foveal hypoplasia.

Photophobia is common in individuals with OCA, but the degree of discomfort varies and does not depend entirely on the amount of melanin pigment present in the iris or skin. In general, opaque contact lenses or darkly tinted lenses do not improve visual function. Dark glasses may be helpful for individuals with albinism, but many prefer to go without dark glasses because of the reduction in vision from the dark lenses. A hat with a brim (such as a baseball hat with a visor) is often the best way to achieve reduction in photophobia and sun protection.

The alternating strabismus found in most individuals with albinism is generally not associated with the development of amblyopia. Strabismus surgery is usually not required, but can be considered for cosmetic reasons if the strabismus is marked or fixed.

Prevention of Secondary Complications

The skin care necessary for individuals with OCA4 to prevent sunburn and secondary skin changes is determined by the amount of pigment in the skin and the cutaneous response to sunlight. The amount of skin pigmentation varies, and protection of the skin with sunscreen correlates with skin pigmentation and the ability to tan.

Individuals with white skin that does not tan need to be protected from any prolonged sun exposure. This can be for exposures as short as five to ten minutes in very sensitive individuals and 30 minutes or more in less sensitive individuals.

Prolonged periods in the sun require skin protection with clothing (hats with brims, long sleeves and pants, socks) and sun screen with a high SPF number (total blocks with SPF 45-50+).

Sunscreens with lower SPF values (for example, SPF 8, 15, or 30) can be used if the individual does not burn routinely with sun exposure.

Surveillance

Annual ophthalmologic examination and reassessment for accurate correction of refractive error are appropriate.

Agents/Circumstances to Avoid

Avoid excessive exposure of the skin to the sun.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

OCA4 is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes and therefore carry one mutant allele.
  • Heterozygotes (carriers) are asymptomatic, but may be light in pigmentation for their ethnic group.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3.
  • Heterozygotes (carriers) are asymptomatic.

Offspring of a proband

  • The unaffected offspring of an individual with OCA4 are obligate heterozygotes (carriers) for a disease-causing mutation in SLC45A2.
  • Most families have no history of OCA4, but families with two-generation “pseudodominance” may occur. Pseudodominance results from an affected individual having children with a reproductive partner who is heterozygous (i.e., a carrier).

Other family members of a proband. Each sib of the proband's parents is at a 50% risk of being a carrier.

Carrier Detection

Carrier testing for at-risk family members is possible if the disease-causing mutations in the family have been identified.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, mutations, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

If the disease-causing mutations have been identified in the family, prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at ~15-18 weeks’ gestation) or chorionic villus sampling (usually performed at ~10-12 weeks’ gestation).

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

A fetal skin biopsy will not provide an accurate diagnosis and is not appropriate for prenatal diagnosis of OCA4.

Requests for prenatal testing for conditions which (like OCA4) do not affect intellect or life span and have some treatment available are not common. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Although decisions about prenatal testing are the choice of the parents, discussion of these issues is appropriate.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutations have been identified.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Albinism Database
    University of Minnesota
    MN
  • National Organization of Albinism and Hypopigmentation (NOAH)
    PO Box 959
    East Hampstead NH 03826-0959
    Phone: 800-473-2310 (toll-free); 603-887-2310
    Fax: 800-648-2310 (toll-free)
    Email: info@albinism.org
  • National Library of Medicine Genetics Home Reference
  • PanAmerican Society for Pigment Cell Research (PASPCR)
  • eyeGENE® - National Ophthalmic Disease Genotyping Network Registry
    Phone: 301-435-3032
    Email: eyeGENEinfo@nei.nih.gov

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A. Oculocutaneous Albinism Type 4: Genes and Databases

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for Oculocutaneous Albinism Type 4 (View All in OMIM)

606202SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2
606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4

Molecular Genetic Pathogenesis

Although not yet observed in humans, the phenotype resulting from heterozygosity of a single Slc45a2 mutation in mice results in hypopigmentation that may be analogous to some of the so-called autosomal dominant forms of albinism reported in humans.

Normal allelic variants. SLC45A2 has seven exons (NM_016180.3), and normal sequence variants are found in many exons and adjacent introns throughout the gene. Eight polymorphisms have been described.

Pathologic allelic variants. See International Albinism home page. Forty-five mutations of SLC45A2 have been reported. Most are missense mutations, but deletions of one or a small number of bases and base changes have been detected [Newton et al 2001, Inagaki et al 2004, Rundshagen et al 2004, Ikinciogullari et al 2005, Inagaki et al 2005, Suzuki et al 2005, Sengupta et al 2007, Gronskov et al 2009, Konno et al 2009]. The most common SLC45A2 mutation in Japanese individuals, accounting for 39% of mutant alleles, is the p.Asp157Asn missense mutation [Inagaki et al 2004].

Most individuals with OCA4 are compound heterozygotes for SLC45A2 mutations, with different maternal and paternal mutations. Approximately 17% of reported Japanese individuals and a cohort from Japan have only one identifiable mutation; the second mutation cannot be detected with the methods used [Inagaki et al 2004, Sengupta et al 2007]. (For more information, see Table A.)

Table 2. Selected SLC45A2 Pathologic Allelic Variants

DNA Nucleotide Change Protein Amino Acid ChangeReference Sequences
c.469G>Ap.Asp157AsnNM_016180​.3
NP_057264​.3
c.563G>Tp.Gly188Val

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Normal gene product. The MATP protein consists of 530 amino acids and contains 12 transmembrane domains (NP_057264.3) [Newton et al 2001]. The precise function of the MATP protein is unknown, although it shares high homology with known sucrose proton symporters.

Abnormal gene product. The mechanisms by which the mutant protein alters the ability of the cell to synthesize melanin are unknown. However, tyrosinase, the rate-limiting enzyme in the biosynthesis of melanin that is associated with OCA1, appears to be mislocalized in mouse melanocytes that are homozygous for mutant SLC45A2 alleles [Costin et al 2003]. This phenotype is shared with melanocytes that are mutant for OCA2, the gene in which mutation causes OCA2 [Toyofuku et al 2002].

References

Medical Genetic Searches: A specialized PubMed search designed for clinicians that is located on the PubMed Clinical Queries page Image PubMed.jpg

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  23. Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y. A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. Br J Dermatol. 2005;152:174–5. [PubMed: 15656822]
  24. Suzuki T, Tomita Y. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci. 2008;51:1–9. [PubMed: 18407468]
  25. Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002;15:217–24. [PubMed: 12028586]

Suggested Reading

  1. Konno T, Abe Y, Kawaguchi M, Kondo T, Tomita Y, Suzuki T. Functional analysis of OCA4 mutant sequences using under white mouse melanocytes. Pigment Cell Melanoma Res. 2009;22:235–7. [PubMed: 19220778]
  2. Li H, Meng S, Zheng H, Wei H, Zhang Y. A Chinese case of oculocutaneous albinism type 4 with two novel mutations. Int J Dermatol. 2008;47:1198–201. [PubMed: 18986462]

Chapter Notes

Author History

Murray H Brilliant, PhD; University of Wisconsin School of Medicine (2005-2011)
Masahiro Hayashi, MD, PhD (2011-present)
Tamio Suzuki, MD, PhD (2011-present)

Revision History

  • 15 September 2011 (cd) Revision: deletion/duplication analysis of SCL45A2 available clinically
  • 5 May 2011 (me) Comprehensive updated posted live
  • 14 June 2007 (cd) Revision: sequence analysis and prenatal diagnosis available clinically
  • 17 November 2005 (me) Review posted to live Web site
  • 21 April 2005 (mb) Original submission
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