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Updated: Jun 17, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision
Anup Kubal1, Gislin Dagnelie, Morton Goldberg
1Wilmer Eye Institute, Johns Hopkins School of Medicine, 600 N.Wolfe Street, Baltimore, MD 21287, USA. anup.kubal@gmail.com
Abstract:
A 9-year-old Caucasian girl of northern European ancestry presented with findings suggestive of ocular albinism, although she maintains good visual acuity and lacks nystagmus and photophobia. DNA analysis revealed that the patient is a compound heterozygote for mutations in the tyrosinase gene, which is typically associated with overt, generalized oculocutaneous albinism and severe ocular symptoms. Her particular genotype confers no apparent cutaneous disease and only mild ocular features.
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