12.4

Oculocutaneous Albinism

Introduction:

Oculocutaneous albinism is a rare, typically autosomal recessive, disorder featuring a dysfunction of the melanin producing cells in the eye, hair, and skin. Tyrosinase-negative forms feature an inability to produce melanin, whereas tyrosinase-positive forms have a decreased ability to produce melanin.

Clinical Features:

The fundus of tyrosinase-negative individuals have a complete lack of pigmentation, whereas tyrosinase-positive individuals have a variable, but reduced, amount of fundus pigmentation (Fig. 12.4.1). Foveal hypoplasia is characteristically present in both types.

Only gold members can continue reading. Log In or Register to continue

Share this:

• Click to share on Twitter (Opens in new window)
• Click to share on Facebook (Opens in new window)

Related

Related posts:

1. Epiretinal Membrane
2. Myopic Choroidal Neovascular Membrane
3. Birdshot Chorioretinopathy
4. Choroidal Melanoma

Stay updated, free articles. Join our Telegram channel

Join

Full access? Get Clinical Tree