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Oculocutaneous albinism type 4(OCA4)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Albinism, oculocutaneous, type IV; OCA4
SNOMED CT: Oculocutaneous albinism type 4 (715632003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): SLC45A2 (5p13.2)
Monarch Initiative: MONDO:0011683
OMIM®: 606574
Orphanet: ORPHA79435


Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the hair and skin 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. [from GeneReviews]

Additional descriptions

Oculocutaneous albinism type IV (OCA4) is an autosomal recessive disorder of pigmentation of skin, hair, and eyes. The degree of hypopigmentation varies from mild to severe. Hair color ranges from white through yellow and blond to brown, with gray, blue-gray, or brown irides. Nystagmus may be present (Inagaki et al., 2004). Other ocular abnormalities include decreased visual acuity, macular hypoplasia, optic dysplasia, or atypical choroidal vessels (Rundshagen et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).  http://www.omim.org/entry/606574
From MedlinePlus Genetics
Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.

Several additional types of this disorder have been proposed, each affecting one or a few families.

Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).  https://medlineplus.gov/genetics/condition/oculocutaneous-albinism

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Hypopigmentation of hair
MedGen UID:
Concept ID:
MedGen UID:
Concept ID:
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Hypopigmentation of the fundus
MedGen UID:
Concept ID:
Disease or Syndrome
Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
Blue irides
MedGen UID:
Concept ID:
A markedly blue coloration of the iris.
Macular hypoplasia
MedGen UID:
Concept ID:
Underdevelopment of the macula lutea.
Visual impairment
MedGen UID:
Concept ID:
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Recent clinical studies


Tóth L, Fábos B, Farkas K, Sulák A, Tripolszki K, Széll M, Nagy N
BMC Med Genet 2017 Mar 15;18(1):27. doi: 10.1186/s12881-017-0386-7. PMID: 28298193Free PMC Article
Sengupta M, Chaki M, Arti N, Ray K
Mol Vis 2007 Aug 10;13:1406-11. PMID: 17768386
Graf J, Voisey J, Hughes I, van Daal A
Hum Mutat 2007 Jul;28(7):710-7. doi: 10.1002/humu.20504. PMID: 17358008
Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y
Am J Hum Genet 2004 Mar;74(3):466-71. Epub 2004 Feb 11 doi: 10.1086/382195. PMID: 14961451Free PMC Article
Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B
Hum Mutat 2004 Feb;23(2):106-110. doi: 10.1002/humu.10311. PMID: 14722913


He D, Liu X, Yao T, Hu J, Zheng X, Tang L, Fan X
Mol Genet Genomic Med 2024 Feb;12(2):e2385. doi: 10.1002/mgg3.2385. PMID: 38337174Free PMC Article
Sather Ιιι R, Thompson D, Ihinger J, Montezuma SR
Ophthalmic Genet 2022 Aug;43(4):522-529. Epub 2022 Feb 27 doi: 10.1080/13816810.2022.2039720. PMID: 35225164
Kruijt CC, Schalij-Delfos NE, de Wit GC, Florijn RJ, van Genderen MM
Sci Rep 2021 Jun 2;11(1):11572. doi: 10.1038/s41598-021-90896-y. PMID: 34078970Free PMC Article
Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, Kubota T
Invest Ophthalmol Vis Sci 2017 Feb 1;58(2):1008-1016. doi: 10.1167/iovs.16-20612. PMID: 28192564
Verhagen JM, Huijmans JG, Williams M, van Ruyven RL, Bergen AA, Wouters CH, Brooks AS
Am J Med Genet A 2012 Nov;158A(11):2931-4. Epub 2012 Sep 17 doi: 10.1002/ajmg.a.35611. PMID: 22987308

Clinical prediction guides

Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, Kubota T
Invest Ophthalmol Vis Sci 2017 Feb 1;58(2):1008-1016. doi: 10.1167/iovs.16-20612. PMID: 28192564

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