Albinism/Albino is a genetic disorder that causes the skin and hair without color or less color. This is due to without or reduce melanin. Pigmented cells in skin and eyes make the pigment called melanin.

Sun protection is required because the skin is without color. Good to wear sunscreen even if you are not directly underneath the sun.

Gene: OCA2 (melanosomal transmembrane protein). [Source: HGNC:8101 ]

OCA2 Chromosome 15. Location 15q12-q13.1 By GeneCards
  • The most common type in Japan is Oculocutaneous albinism type 4 by MalaCards
  • The allele of missense SNP, rs74653330 (Ala481Thr) turnout widely in Northern Eurasia and is common in Eastern Siberian and Mongolian populations. [Reference: Article number: 15433 (2020) ].
  • Tyrosinase (TYR) gene mutation could contribute to oculocutaneous albinism (OCA) in Pakistani families. [Reference: Nature – 1339–1346(2019)].

Oculocutaneous albinism:

  • Affect all parts of the body including hair, skin and eyes.
  • Sensitive to light.

Ocular albinism:

  • Deafness
  • Poor eye sight. Blurry vision due to abnormal connections in the nerves from the retina to the brain that prevents the eyes from tracking together and reduces depth perception. [Reference: NORD – Signs & Symptoms of Ocular Albinism ].
  • Dizziness and unable to balance.
  • Ocular albinism is also termed as Waardenburg syndrome.
  • Gene OA1/X-linked ocular albinism.
  • Ocular albinism is most common.
  • Also known as GPR143 (G Protein-Coupled Receptor 143). Disease associated with dyfunction of GPR143 gene are Albinism Ocular I, Nystagmus 6, X-Linked and Congenital.

Nystagmus 6, Congenital, X-Linked, is also known as NYS6 by

Unable to form focused image in one or both eyes is called Amblyopia.

Related Disease:

Hermansky-Pudlak Syndrome (HPS)