Work

Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum

Year: 2024

Type: article

Abstract: This case report details the clinical manifestations observed in a 22-year-old male diagnosed with ocular albinism (OA). The patient underwent a comprehensive eye examination by one of the authors, revealing clinical features such as skin depigmentation, telecanthus, iris transillumination, nystagmus, and foveal hypoplasia. This report underscores the importance of a thorough clinical examination and genetic testing for accurate diagnosis, effective management, and appropriate counseling of patients with OA.

Source: Cureus

DOI: 10.7759/cureus.67204

Authors: José J López-Fontanet, Raúl Y Ramos-Sánchez, Natalio Izquierdo

Institutions: University of Puerto Rico, Medical Sciences Campus, University of Puerto Rico System

Language: English

Topic: Ocular Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4401697348