A Case of Oculocutaneous Albinism.
- Author:
Kang Yeoul LEE
1
;
Min Seop BAN
;
Beak Ran SONG
;
Joong Ha YOO
Author Information
1. Department of Ophthalmology, College of Medicine, Inha University.
- Publication Type:Case Report
- Keywords:
Hair follicle incubation test;
Immature melanosome;
Oculocutaneous albinism
- MeSH:
Albinism, Oculocutaneous*;
Child;
Female;
Hair;
Hair Follicle;
Hand;
Humans;
Hypopigmentation;
Iris;
Melanins;
Melanosomes;
Photophobia;
Skin;
Strabismus;
Sunlight;
Visual Acuity
- From:Journal of the Korean Ophthalmological Society
2000;41(1):288-293
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Oculocutaneous albinism resulting from genetic defect of melanin synthesizing system is characterized by pale skin, straw-colored hair, hypopigmentation of the iris, hypoplasia of fovea, photophobia, low visual acuity and strabismus. In general, oculocutaneous albinism can be distinguished by its clinical feature and hair follicle incubation test but should be diagnosed by electron microscopic findings of the skin which is exposed to sunlight. We experienced a case of 6-year-old female oculocutaneous albinism that showed clinical typical features and was diagnosed through electron microscopic finding of many immature melanosomes of the skin in the back of the hand. We report this unusual case with literature review.
