Ontology highlight
ABSTRACT: Introduction
Wilson's disease is a rare autosomal recessive disorder that disrupts copper metabolism. It presents with distinctive ocular manifestations. Oculodermal melanosis, commonly referred to as nevus of Ota, is a painless condition characterized by hyperpigmentation in and around the eye. In this case report, we describe the unique occurrence of both conditions in this pediatric patient.Case presentation
A 10-year-old girl exhibited classic ocular signs associated with Wilson's disease, including Kayser-Fleischer rings and sunflower-type cataracts. Additionally, she displayed unilateral confluent gray-blue hyperpigmentation consistent with a nevus of Ota. As of now, the patient remains asymptomatic, with preserved visual acuity.Conclusions
To the best of our
SUBMITTER: Nemet A
PROVIDER: S-EPMC11521509 | biostudies-literature | 2024 Jan-Dec
REPOSITORIES: biostudies-literature