Oculocutaneous albinism type 1A: a case report.
The term, oculocutaneous albinism (OCA), describes a group of inherited disorders of melanin biosynthesis that exhibits congenital hypopigmentation of ocular and cutaneous tissues. The clinical spectrum of OCA ranges from a complete lack of melanin pigmentation to mildly hypopigmented forms. OCA1A is the most severe type with a complete lack of melanin production throughout life; 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 and refractive errors, color vision impairment, and prominent photophobia. 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. Herein we present a case with OCA1A.
Karaman
Ali
A
Department of Medical Genetics, Erzurum Training and Research Hospital, Turkey.
D000293:Adolescent; D016115:Albinism, Oculocutaneous / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D014792:Visual Acuity
D014442:Monophenol Monooxygenase