Oculocutaneus Albinism
Journal Title: Medeniyet Medical Journal - Year 2008, Vol 23, Issue 4
Abstract
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 1/17,000. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack 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 hypoplasia, reduced visual acuity usually (20/60 to 20/400) 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, OCA2, 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.
Authors and Affiliations
Ali Karaman, Cengiz Öztürk
Keywords
Related Articles
- EP ID EP84498
- DOI -
- Views 180
- Downloads 0
Menopozal sıcak basması ve alternatif tedavi seçenekleri
Perimenopozal dönemin en önemli yakınmalarından biri sıcak basmasıdır. Sıcak basması tekrarlayan, özellikle yüzde kızarmaya neden olan, terleme oluşturan, vücudun üst bölümlerinde ve yüzde yoğun ısı hissi yaratan ve ardı...
Oculocutaneus Albinism
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 cons...
Non-pharmacological method and the analysis of antihypertension medication
Hypertension is one of the most important health problems. Hypertension’s cure and getting’s rates under blood pressure are generally low also there are important diffrences among countries. Recently, many kinds of h...
Tubal sterilizasyonda elektrokoagülasyon ve mekanik klips yöntemlerinin over rezervine etkilerinin karşılaştırılması
Amaç: Laparoskopik tubal sterilizasyon uygulanan hastalarda elektrokoagulasyon ve mekanik klips yöntemlerinin over rezervine etkilerini karşılaştırmak Metodoloji: Bu prospektif randomize çalısmaya tubal sterilizasyon...