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Oculocutaneous albinism type 3(OCA3)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Albinism 3; ALBINISM III; Albinism, oculocutaneous, type III; OCA3; Rufous albinism; Rufous OCA; Rufous oculocutaneous albinism; Xanthism
SNOMED CT: Rufous albinism (63450009); Red-skin albinism (63450009); Xanthism (63450009); Rufous oculocutaneous albinism (63450009)
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): TYRP1 (9p23)
Monarch Initiative: MONDO:0008747
OMIM®: 203290
Orphanet: ORPHA79433


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

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.

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). [from MedlinePlus Genetics]

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).
Red hair
MedGen UID:
Concept ID:
Partial albinism
MedGen UID:
Concept ID:
Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.
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.
MedGen UID:
Concept ID:
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Recent clinical studies


Patel MH, Dolinska MB, Sergeev YV
Int J Mol Sci 2021 Sep 22;22(19) doi: 10.3390/ijms221910203. PMID: 34638544Free PMC Article

Clinical prediction guides

Patel MH, Dolinska MB, Sergeev YV
Int J Mol Sci 2021 Sep 22;22(19) doi: 10.3390/ijms221910203. PMID: 34638544Free PMC Article

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