Oculocutaneous Albinism Type 7 with Recurrent Infections: A Case Report

Özet

Oculocutaneous albinism (OCA) is a disorder of melanin biosynthesis characterized by hypopigmentation of the skin, hair, and retinalpigment epithelium. We present the clinical and laboratory features of two siblings, born to consanguineous Turkish parents, who werediagnosed with autosomal recessive OCA type 7. We detected a homozygous mutation in the C10ORF11 gene (p.A23Rfs * 39) in bothpatients. Interestingly, the medical history revealed that both patients had suffered from recurrent respiratory tract infections since birth.The patients were investigated for suspected immunodeficiency and the results of the immune screening assays were normal. We believethese patients are noteworthy to report since presentation with infections has not been described in the prior descriptions of OCA type7. As of this current writing, infectious problems have stopped in one of our cases since the age of five and a half years.