Oculocutaneous albinism type I or type 1A [1] is form of the autosomal recessive condition oculocutaneous albinism that is caused by a dysfunction in the gene for tyrosinase (symbol …

Aug 18, 2015 · There are seven types of OCA (OCA1-7) caused by mutations in seven different genes. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition.

Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with …

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most …

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 …

OCA1 is caused by mutations of the tyrosinase gene, and can occur in two variations. The first is OCA1a, which means that the organism cannot synthesize melanin whatsoever. [6] . The hair …

Oculocutaneous albinism (OCA) describes a group of inherited (autosomal recessive) conditions which are characterised by disruption to the melanin biosynthesis pathway resulting in …

OCA1 is well suited to benefit from adeno-associated virus (AAV) gene therapy given that one functional TYR copy is sufficient to prevent OCA1-related retinal disease and the RPE is …

OCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, …

Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes.