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Updated: Jun 12, 2025

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum
José J López-Fontanet1, Raúl Y Ramos-Sánchez2, Natalio Izquierdo3
1Department of Ophthalmology, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.
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.
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