Aug 18, 2015 · All individuals with OCA have the above visual changes but the amount of skin, hair and iris pigment can vary depending on the gene (or type of OCA) and mutation involved. …

OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2] Seven types of oculocutaneous albinism have been described, all caused by …

Most types of OCA display autosomal recessive inheritance. There are eight types of OCA ( oculocutaneous albinism type 1 [OCA1] to oculocutaneous albinism type 8 [OCA8]), seven of …

Oculocutaneous albinism (OCA) is a group of rare genetic disorders of melanin biosynthesis that disrupt melanosomal proteins; each is inherited in an autosomal recessive pattern [1]. Eight …

Mutation in TYR, OCA2, TYRP1 and SLC45A2 genes are the main cause of oculocutaneous albinism, and the respective pathologies are named with the acronyms OCA types 1 (A and B) …

Recently, variants in the DCT gene were showed to be responsible for a new type of oculocutaneous albinism (OCA) named OCA8. We report the ophthalmological, …

There are eight OCA types (OCA1–8) documented with non-syndromic characteristics. Molecular studies identified seven genes linked to the OCA phenotype (TYR, OCA2, TYRP1, SLC45A2, …

In OCA type VII, skin pigment is decreased, and hair can range from white to brown. This gene encodes an enzyme that plays a role in modification of skin pigment color. In OCA type VIII, …

Mar 3, 2025 · Oculocutaneous albinism (OCA) is a rare genetic disorder that affects the color of your eyes, skin and hair.Having albinism means your body can’t produce and/or distribute a …

Oculocutaneous albinism type VIII (OCA8) is characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, …