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[Ocular albinism in pediatric patients with nystagmus].

作者信息

Trzebicka Agnieszka, Sarti Grazyna, Kocyła-Karczmarewicz Beata, Grałek Mirosława, Juszko Jadwiga, Szapłyko Waldemar

机构信息

Kliniki Okulistyki Instytutu Pomnik, Centrum Zdrowia Dziecka w Warszawie.

出版信息

Klin Oczna. 2006;108(4-6):170-3.

Abstract

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.

摘要

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