Trzebicka Agnieszka, Sarti Grazyna, Kocyła-Karczmarewicz Beata, Grałek Mirosława, Juszko Jadwiga, Szapłyko Waldemar
Kliniki Okulistyki Instytutu Pomnik, Centrum Zdrowia Dziecka w Warszawie.
Klin Oczna. 2006;108(4-6):170-3.
Presentation of diagnostic methods and results obtained in childre with nystagmus, with suspicion of ocular albinism.
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.
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.
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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