A Case Report on Oculocutaneous albinism
Badreddine OUBAAZ *
Faculty of medicine and Pharmacy, Mohamed V University, Rabat, Morocco.
Ilyass ELOUARDANI
Faculty of Medicine and Pharmacy, Cadi Ayad University, Marrakech, Morocco.
AIT LHAJ El Houssaine
Faculty of Medicine and Pharmacy, Cadi Ayad University, Marrakech, Morocco.
ELASRI fouad
Faculty of Medicine and Pharmacy, Cadi Ayad University, Marrakech, Morocco.
*Author to whom correspondence should be addressed.
Abstract
Aims: Understanding the epidemiology, pathophysiology, clinical manifestations, causative mutations and management of oculocutaneous albinism by reporting a case of a 7-year-old child affected by this disease
Study Design: Case report.
Case Report: 7-year-old child 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.
Keywords: Oculocutaneous albinism, genetic, paediatric, molecular diagnostics