Wydanie 4-6/2006

Albinizm oczny u dzieci z oczopląsem Agnieszka Trzebicka, Grażyna Sarti, Beata

Ocular albinism in pediatric patients with nystagmus

Kocyła-Karczmarewicz, Mirosława Grałek, Jadwiga Juszko, Waldemar Szapłyko


Summary: Purpose: Presentation of diagnostic methods and results obtained in children 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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