Oculocutaneus Albinism Okülokutanöz albinizim
Goztepe Tip Dergisi, cilt.23, sa.4, ss.149-155, 2008 (Scopus, TRDizin)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 23 Sayı: 4
- Basım Tarihi: 2008
- Dergi Adı: Goztepe Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.149-155
- Anahtar Kelimeler: Differential diagnosis, Mutation, Oculocutaneus albinism
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately II 17,000. The clinical spectrum of OCA ranges, with OCAIA being the most severe type with a complete tack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasi-a, reduced visual acuity usually (20160 to 201400) and refractive errors, color vision impairment and prominent photophobia. Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, 0CA2, TYRP1 and MATP). Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Due to the clinical overlap between the OCA forms, molecular diagnosis is necessary to establish the gene defect and OCA subtype.