Article
[Oculocutaneous albinism].
Annales de pediatrie - 1 Sept 1992
Lacour J P, Ortonne J P
Abstract excerpt
Oculocutaneous albinism (OCA) is an inherited condition characterized by hypopigmentation of the skin, hair, and eyes. Ocular involvement is often severe with photophobia, decreased visual acuity due to foveal hypoplasia, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma. Cutaneous hypopigmentation is responsible for diminished photoprotection that places patients at increased...
Topics
- Albinism, Oculocutaneous
- Diagnosis, Differential
- Genetic Counseling
- Humans
- Melanins
- Phenotype