Case report: diagnosis and treatment of attention deficit hyperactivity disorder and autism spectrum disorder in patients diagnosed with oculocutaneous albinism

Abstract

Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by impairment in the melanin synthesis. We report two siblings with OCA who presented with symptoms of autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). Ocular side effects occured after methylphenidate (MPH) treatment in the patient with ADHD and OCA. The diagnosis of OCA has been associated with difficulties in academic and social fields due to decreased visual activity and differentiation of phenotypic characteristics. Delayed diagnosis of comorbid neuropsychiatric disorders and MPH therapy may increase these difficulties. Patients with OCA require careful evaluation and treatment for neuropsychiatric disorders.