A Case Report on Oculocutaneous Albinism

Aims: Understanding the epidemiology, pathophysiology, clinical manifestations, causative mutations and management of oculocutaneous albinism by reporting a case of a 17 year old affected by this disease. Study Design: Case report: 17-year-old male presenting oculocutaneous albinism who presented for an ophthalmology consultation due to a profound decrease in visual acuity, associated with nystagmus and photophobia that had been progressing since early childhood. Discussion and Literature Review: We will comprehensively examine all aspects of oculocutaneous albinism by reviewing the literature on its epidemiology, pathophysiology, clinical manifestations, differential diagnosis, treatment, and prognosis. Conclusion: Advances in molecular diagnostics have significantly enhanced the detection of causative mutations, enabling improved clinical management and genetic counseling. Emerging therapeutic approaches, including pharmacological interventions, offer promising avenues for correcting pigmentation defects.