Clinical characteristics.

Oculocutaneous albinism type 4 (OCA4) is characterized by: (1) the ocular changes found in all types of albinism that include 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 that depends on the amount of iris and retinal pigment; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and altered visual evoked potential; and (2) reduced pigmentation of the skin and hair that ranges from minimal to near normal. Infants with OCA4 are usually recognized by age one year due to hypopigmentation of the skin and hair that ranges in color from silvery white to light yellow. Although hair color may darken with time, it does not vary significantly from childhood to adulthood.

Diagnosis/testing.

The diagnosis of OCA4 is established in a proband with suggestive findings and biallelic pathogenic variants in SLC45A2 identified by molecular genetic testing.

Management.

Treatment of manifestations: Correction of refractive errors with spectacles or contact lenses to improve visual acuity. Strabismus surgery may be considered for cosmetic reasons. Although dark glasses may reduce photophobia, they may also reduce vision; thus, a hat with a brim or visor is best to reduce photophobia. Protection from the sun by wearing protective clothing and regular application of topical sunscreens is essential to prevent sunburn and secondary skin changes, and to decrease the risk of skin cancer later in life. Individuals with OCA4 should stay out of the sun from an early age, because cumulative ultraviolet exposure is a major risk factor for skin cancers.

Surveillance: Annual ophthalmologic examination and reassessment for accurate correction of refractive error. Evaluation of the skin for cancer screening every six months is recommended.

Agents/circumstances to avoid: Prolonged exposure of the skin to the sun, activities without appropriate eye protection from the sun, and tanning beds and artificial ultraviolet sources.

Genetic counseling.

OCA4 is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an SLC45A2 pathogenic variant, each sib of an affected individual has at conception 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 the SLC45A2 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.

Suggestive Findings

OCA4 should be considered in probands with the following clinical findings and family history.

Clinical findings. Most individuals with OCA4 are recognized within the first year of life because of the following findings.

• Hypopigmentation of the skin and hair varying from complete depigmentation to partial depigmentation with brown hair. In many families, particularly in those with darker constitutional pigmentation, the cutaneous hypopigmentation is also obvious at birth and suggests the diagnosis. 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
• Vision abnormalities (due to misrouting of the optic nerves at the chiasm) including:
  • Alternating strabismus
  • Reduced stereoscopic vision
  • Altered visual evoked potential (VEP)
    Note: (1) A VEP is not necessary for the routine diagnosis of albinism; misrouting of the optic nerves 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 needs to be performed with a technique specifically developed for demonstration of the misrouting of the optic nerves that a regular VEP will not demonstrate. (4) Normal routing of the optic nerves demonstrated with a VEP indicates that the diagnosis is not OCA4.

Family history is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of OCA4 is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in SLC45A2 identified by molecular genetic testing (see Table 1).

Note: (1) Per American College of Medical Genetics and Genomics / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of biallelic SLC45A2 variants of uncertain significance (or of one known SLC45A2 pathogenic variant and one SLC45A2 variant of uncertain significance) does not establish or rule out the diagnosis.

Molecular genetic testing approaches can include a combination of gene-targeted testing (multigene panel) and comprehensive genomic testing (exome sequencing, whole-genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Note: Single-gene testing (sequence analysis of SLC45A2, followed by gene-targeted deletion/duplication analysis) is rarely useful and typically NOT recommended.

Clinical Description

The phenotypic spectrum of oculocutaneous albinism type 4 (OCA4) is broad [Suzuki & Tomita 2008]. The amount of cutaneous pigmentation in individuals with 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.

Genotype-Phenotype Correlations

Classes of pathogenic variants. An analysis of the two main phenotypes in 30 individuals with molecularly proven OCA4 identified the following Moreno-Artero et al [2022]:

• In 20 individuals with either SLC45A2 homozygous or compound heterozygous nonsense or deletion variants with a frameshift resulting in interruption of gene to translation, the phenotype was clinically indistinguishable from the classic OCA1 phenotype (see the Oculocutaneous Albinism and Ocular Albinism Overview).
• In 10 individuals with at least one SLC45A2 missense variant, the mild-to-moderate phenotypes were characterized by (1) very mild hypopigmentation of the hair (which was light brown or even dark), skin pigmentation like that of the general population, and (2) variable ophthalmologic findings (i.e., visual acuity that can be subnormal; foveal hypoplasia can be low grade or even normal; possible absence of nystagmus).

Specific pathogenic variants. Functional studies have demonstrated that the p.Asp157Asn and p.Gly188Val variants commonly identified in Japanese individuals with OCA4 retain minimal residual activity [Konno et al 2009]. Individuals homozygous or compound heterozygous for these variants exhibit a severe phenotype [Inagaki et al 2004, Okamura & Suzuki 2021].

In contrast, the promoter variant c.-492_489delAATG has been associated with a milder phenotype when present in compound heterozygosity with other pathogenic variants [Okamura et al 2019].

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.

It is appropriate to classify nonsyndromic OCA according to the gene involved rather than by phenotype (i.e., extent of skin and ophthalmologic involvement). Thus, two former classifications based on skin and ophthalmologic findings and/or mode of inheritance ("brown" OCA and autosomal recessive ocular albinism) are confusing and no longer valid. This is partly due to phenotypic heterogeneity in different races despite having the same genetic variants. See Oculocutaneous Albinism and Ocular Albinism Overview.

OCA4 may also be referred to as SLC45A2-related oculocutaneous albinism based on the dyadic naming approach proposed by Biesecker et al [2021] to delineate mendelian genetic disorders.

Prevalence

Prevalence of OCA4 is thought to be on the order of 1:100,000 in most populations throughout the world. However, it is the most common subtype of OCA in Japan, accounting for 30% (67/220) of individuals with molecularly confirmed OCA [Okamura et al 2025].

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with OCA4, the evaluations summarized in Table 2 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

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

Most 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.

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

Photophobia is common; however, 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; however, many individuals prefer to go without dark glasses because dark lenses can reduce vision. A hat with a brim (e.g., a baseball hat with a visor) is often the best way to achieve reduction in photophobia and sun protection.

Protection from the sun by wearing protective clothing and regular application of topical sunscreens is essential to prevent sunburn and secondary skin changes, and to decrease the risk of skin cancer later in life.

Prolonged periods in the sun require skin protection with clothing (hats with brims, long sleeves and pants, socks) and topical sunscreens with a high SPF number (total blocks with SPF 45-50+). There is no scientific evidence to indicate how high an SPF value is sufficient; individuals with OCA4 should use sunscreen with higher SPF values (45-50+) to lessen as much as possible the cumulative effect of ultraviolet light to their skin.

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the following evaluations are recommended:

• Annual ophthalmologic examinations and reassessment for accurate correction of refractive errors are appropriate.
• Although there are no definitive guidelines supported by scientific evidence as to the frequency that an individual should be evaluated by a dermatologist, skin evaluation for cancer screening every six months is recommended.

Agents/Circumstances to Avoid

Avoid the following:

• Prolonged exposure of the skin to the sun
• Activities without appropriate eye protection from the sun
• Tanning beds and artificial ultraviolet sources

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 in the US and EU Clinical Trials Register in Europe 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.

Mode of Inheritance

Oculocutaneous albinism type 4 (OCA4) is inherited in an autosomal recessive manner.

Note: Some studies have suggested the possibility of autosomal dominant inheritance (see Molecular Pathogenesis, Missing variants).

Risk to Family Members

Parents of a proband

• The parents of an affected individual are presumed to be heterozygous for an SLC45A2 pathogenic variant.
• Molecular genetic testing is recommended for the parents of the proband to confirm that both parents are heterozygous for an SLC45A2 pathogenic variant and to allow reliable recurrence risk assessment.
• If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;
  • Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.
• Heterozygotes (carriers) are asymptomatic and not at risk of developing the disorder, although they may be light in pigmentation compared to their family members.

Sibs of a proband

• If both parents are known to be heterozygous for an SLC45A2 pathogenic variant, each sib of an affected individual has at conception 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.
• Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder, although they may be light in pigmentation compared to their family members.

Offspring of a proband. Unless an affected individual's reproductive partner also has OCA4 or is a carrier, offspring will be obligate heterozygotes (carriers) for a pathogenic variant in SLC45A2.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of an SLC45A2 pathogenic variant.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the SLC45A2 pathogenic variants in the family.

Related Genetic Counseling Issues

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic 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.

Prenatal Testing and Preimplantation Genetic Testing

Once the SLC45A2 pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

SLC45A2 encodes membrane-associated transporter protein (MATP), which is only expressed in melanocytes [Newton et al 2001]. Although the precise function of MATP is yet to be elucidated, it appears to play a role in tyrosinase processing, intracellular trafficking of tyrosinase to melanosomes, and regulating tyrosinase activity through controlling the pH of melanosomes [Costin et al 2003, Bin et al 2015]. The mechanisms by which the abnormal protein alter 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 oculocutaneous albinism type 1, appears to be mislocalized in mouse melanocytes that are homozygous for pathogenic SLC45A2 variants [Costin et al 2003]. This phenotype is shared with melanocytes that contain pathogenic variants in OCA2, the gene associated with oculocutaneous albinism type 2 [Toyofuku et al 2002].

Mechanism of disease causation. Loss of function

Missing variants. If molecular genetic testing has identified only one SLC45A2 pathogenic variant in the proband, additional possibilities to consider include the following:

• The proband does not have OCA4.
• The proband has a missing variant on the other allele that has not yet been detected or is undetectable by current methods. Studies have reported many individuals with a single pathogenic SLC45A2 variant using standard methods [Inagaki et a 2004, Sengupta et al 2007].
• Some studies have suggested autosomal dominant inheritance, including two reported families with the pathogenic variant NM_016180.5:c.208T>C (p.Tyr70His) [Oki et al 2017, Zhang et al 2025]. However, several studies have also reported non-coding SLC45A2 variants, including deep intronic or splicing variants or variants in the promoter region, in individuals with OCA4 that could be missed by standard molecular genetic testing methods (such as multigene panels or exome sequencing). Therefore, these instances warrant more comprehensive sequencing methods such as genome sequencing, supplemented with methods such as RNA sequencing to detect splicing abnormalities and increase the diagnostic yield [Rooryck et al 2008, Okamura et al 2019, Diallo et al 2024].

Author Notes

Dr Ken Okamura (pj.ca.u-atagamay.di.dem@arumako-k) is actively involved in clinical research and genetic diagnosis of individuals with oculocutaneous albinism (OCA) and other genetic pigmentary disorders. He welcomes communication with clinicians regarding diagnostic challenges, variant interpretation, or clinical management of patients with these conditions.

Dr Okamura is also interested in hearing from clinicians treating families affected by pigmentary disorders in whom no causative variant has been identified through molecular genetic testing of known disease genes.

Acknowledgments

This work was supported by Health and Labor Sciences Research Grant for Research on Intractable Diseases from the Ministry of Health, Labor, and Welfare of Japan, 23FC1039.

Author History

Murray H Brilliant, PhD; University of Wisconsin School of Medicine (2005-2011)
Masahiro Hayashi, MD, PhD; Yamagata University (2011-2026)
Ken Okamura, MD, PhD (2026-present)
Tamio Suzuki, MD, PhD (2011-present)

Revision History

• 12 February 2026 (bp) Comprehensive update posted live
• 7 September 2017 (ha) Comprehensive update posted live
• 5 May 2011 (me) Comprehensive updated posted live
• 17 November 2005 (me) Review posted live
• 21 April 2005 (mb) Original submission

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