Korean J Otolaryngol-Head Neck Surg.
2004 Jul;47(7):683-691.
Two Cases of Oculocutaneous Albinism with Congenital Nystagmus
- Affiliations
-
- 1Department of Otolaryngology, Gachon Medical College, Incheon, Korea.
- 2Department of Ophthalmology, Gachon Medical College, Incheon, Korea.
Abstract
- Albinism is a hereditary disease caused by the defect of tyrosinase that converts tyrosine to dihydroxyphenylalanine (DOPA). `Oculocutaneous albinism' is classified as hypopigmentation of skin, hair and eyes, but incidences of `ocular albinism' where hypopigmentation is limited to eyes are found rarely. Biochemically, albinism is caused by the tyrosinase activity. Typical findings in oculocutaneous albinism include not only ophthalmologic problems such as hypopigmentation of skin, foveal hypoplasia, photophobia and decreased visual acuity but also congenital nystagmus. We cannot determine distinctive characteristics of nystagmus of albinism because domestically, there are only a few reports that have been recorded correctly about nystagmus of albinism. Merely, we present our experience of two cases of albinism with congenital nystagmus because we think that these two cases, showing different types of nystagmus and electronystagmography, stand for the two representative types of nystagmus found in the literature up to date.
