Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum
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.
Authors
- Natalio Izquierdo
- Raúl Y Ramos-Sánchez
- José J López-Fontanet (ORCID: https://orcid.org/0009-0008-0690-850X)
Institutions
- University of Puerto Rico, Medical Sciences Campus (PR)
Publication Details
- Journal
- Cureus
- Published
- 2024-08-19
- DOI
- https://doi.org/10.7759/cureus.67204
- Citations
- 1
- Primary Topic
- melanin and skin pigmentation
- Type
- article
- Field-Weighted Citation Impact
- 0.33