Two Cases of Oculocutaneous Albinism with Congenital Nystagmus.
- Author:
Gyu Cheol HAN
1
;
Jung Hoon LEE
;
Hae Jung PAIK
Author Information
1. Department of Otolaryngology, Gachon Medical College, Incheon, Korea.
- Publication Type:Case Report
- Keywords:
Albinism;
Congenital nystagmus;
Electronystagmography
- MeSH:
Albinism;
Albinism, Oculocutaneous*;
Dihydroxyphenylalanine;
Electronystagmography;
Genetic Diseases, Inborn;
Hair;
Hypopigmentation;
Incidence;
Monophenol Monooxygenase;
Nystagmus, Congenital*;
Photophobia;
Skin;
Tyrosine;
Visual Acuity
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2004;47(7):683-691
- CountryRepublic of Korea
- Language:Korean
-
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.
