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Updated: Jul 19, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
[Ocular albinism in pediatric patients with nystagmus]
Agnieszka Trzebicka1, Grazyna Sarti, Beata Kocyła-Karczmarewicz
1Kliniki Okulistyki Instytutu Pomnik, Centrum Zdrowia Dziecka w Warszawie.
Purpose:
Presentation of diagnostic methods and results obtained in childre with nystagmus, with suspicion of ocular albinism.
Material And Methods:
Records of 9 children (range 0.2 to 5.5 years) are presented. In all cases family history, ophthalmic examination and visual evoked potentials were analyzed.
Results:
Clinical signs of ocular albinism were found in all patients. 2 children had cutaneous albinism, VEP records of 7 children indicated abnormalities typical for albinism, clinical signs of gene carrying were found in 7 mothers.
Conclusions:
Clinical signs enable us to diagnose ocular albinism with relatively high probability, nevertheless characteristic VEP records confirm diagnosis in clinically difficult cases.
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