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.

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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
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article

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

Natalio Izquierdo, Raúl Y Ramos-Sánchez, José J López-Fontanet
1 citations
Cureus
melanin and skin pigmentation
0.33
article

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

Natalio Izquierdo, Raúl Y Ramos-Sánchez, José J López-Fontanet
article en
1 citations

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.

CureusVol. 16(8)
University of Puerto Rico, Medical Sciences Campus (PR)
Zero hunger
Openalex Percentile: Top 42%
melanin and skin pigmentation
0.33
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